Distúrbio metabólico hereditário caracterizado por defeitos na síntese de glicogênio ou defeitos na degradação do glicogênio. Isso resulta na criação de formas anormais de glicogênio ou no acúmulo de glicogênio nos tecidos.
Introdução
O que você precisa saber de cara
Distúrbio metabólico hereditário caracterizado por defeitos na síntese de glicogênio ou defeitos na degradação do glicogênio. Isso resulta na criação de formas anormais de glicogênio ou no acúmulo de glicogênio nos tecidos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 198 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 503 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
28 genes identificados com associação a esta condição.
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin
Cell membrane
Glycogen storage disease 9A
A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.
Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity)
E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed:17006537, PubMed:19136968, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777, PubMed:28189684, PubMed:28481331). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signal
Cytoplasm
Immunodeficiency 115 with autoinflammation
An autosomal recessive immunologic disorder manifesting in early infancy and characterized by combined immunodeficiency, recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis.
Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, glycogen synthase transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan
Muscle glycogen storage disease 0
Metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work.
Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum. Transports cytoplasmic glucose-6-phosphate into the lumen of the endoplasmic reticulum and translocates inorganic phosphate into the opposite direction (PubMed:33964207). Forms with glucose-6-phosphatase the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it plays a central role in homeostatic regulation of blood glucose levels
Endoplasmic reticulum membrane
Glycogen storage disease 1B
A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease.
Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (PubMed:35549678)
Glycogen storage disease 9C
A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis.
AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:14722619, PubMed:24563466). In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation (PubMed:14722619, PubMed:24563466). AMPK acts via direct phosphorylation
Wolff-Parkinson-White syndrome
A supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia.
Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis
Cytoplasm
Glycogen storage disease 7
A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.
Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis
Cytoplasm, cytosol
Glycogen storage disease 6
A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected.
Facilitative hexose transporter that mediates the transport of glucose, fructose and galactose (PubMed:16186102, PubMed:23396969, PubMed:28083649, PubMed:8027028, PubMed:8457197). Likely mediates the bidirectional transfer of glucose across the plasma membrane of hepatocytes and is responsible for uptake of glucose by the beta cells; may comprise part of the glucose-sensing mechanism of beta cells (PubMed:8027028). May also participate with the Na(+)/glucose cotransporter in the transcellular tr
Cell membrane
Fanconi-Bickel syndrome
Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.
Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate (PubMed:30323285, PubMed:7391028). Both L- and D- forms of purine and pyrimidine nucleotides can be used as substrates, but the activity is much lower on pyrimidines (PubMed:18463139). In addition to its role as a glycolytic enzyme, it seems that PGK1 acts as a polymerase alpha cofactor protein (primer recognition protein) (PubMed:2324090). Acts
Cytoplasm, cytosolMitochondrion matrix
Phosphoglycerate kinase 1 deficiency
A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations, and some affected individuals develop parkinsonian symptoms.
Glycogenin participates in the glycogen biosynthetic process along with glycogen synthase and glycogen branching enzyme. It catalyzes the formation of a short alpha (1,4)-glucosyl chain covalently attached via a glucose 1-O-tyrosyl linkage to internal tyrosine residues and these chains act as primers for the elongation reaction catalyzed by glycogen synthase
CytoplasmNucleus
Glycogen storage disease 15
A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation.
Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation and autophagy (PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032, PubMed:36586411, PubMed:37390818, PubMed:8662539). Acts as an important regulator of lysosomal lumen pH regulation by acting as a direct inhibitor of the proton channel TMEM175, facilitating lysosomal acidification for optimal hydrolase activity (PubMed:37390818). Plays an important role in chaperone-media
Lysosome membraneEndosome membraneCell membraneCytoplasmic vesicle, autophagosome membrane
Danon disease
DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and intellectual disability. It is often associated with an accumulation of glycogen in muscle and lysosomes.
Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis. Appears to have a function in striated muscle development and regeneration
Cytoplasm
Glycogen storage disease 13
A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis.
Catalyzes the interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate, but with a reduced activity
Glycogen storage disease 10
A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance.
Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation
Cytoplasm
Glycogen storage disease 3
A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively.
Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, glycogen synthase transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan
Glycogen storage disease 0
A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia.
Glycogen-branching enzyme participates in the glycogen biosynthetic process along with glycogenin and glycogen synthase. Generates alpha-1,6-glucosidic branches from alpha-1,4-linked glucose chains, to increase solubility of the glycogen polymer (PubMed:26199317, PubMed:8463281, PubMed:8613547)
Glycogen storage disease 4
A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity.
Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis
Glycogen storage disease 5
A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.
Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+)
Cytoplasm
Glycogen storage disease 11
A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue.
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation
Cell membrane
Glycogen storage disease 9B
A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity.
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production in the terminal step of glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels
Endoplasmic reticulum membrane
Glycogen storage disease 1A
A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.
E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates (PubMed:12629548, PubMed:17449468, PubMed:18711448). Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination (PubMed:12629548). Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome (PubMed:17449468, PubMed:18711448). Component of the LUBAC complex which conjug
Polyglucosan body myopathy 1 with or without immunodeficiency
A disease characterized by polyglucosan storage myopathy associated with early-onset progressive muscle weakness and progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. Some patients present with severe immunodeficiency, invasive bacterial infections and chronic autoinflammation.
Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+)
CytoplasmMitochondrion inner membrane
Lactate dehydrogenase B deficiency
A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected.
Essential for the degradation of glycogen in lysosomes (PubMed:14695532, PubMed:18429042, PubMed:1856189, PubMed:7717400). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980)
LysosomeLysosome membrane
Pompe disease, infantile-onset
An early-onset form of Pompe disease, an autosomal recessive lysosomal storage disease characterized by lysosomal alpha-glucosidase deficiency, a broad clinical spectrum and age at onset ranging from infancy to adulthood. The classic early-onset form of IOPD presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. A milder infantile form manifests as progressive muscular disorder of childhood and patients have better prognosis.
E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for pro
Endoplasmic reticulumNucleus
Myoclonic epilepsy of Lafora 2
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. MELF2 is an autosomal recessive, severe form characterized by onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, myoclonic jerks, generalized seizures, and often visual hallucination. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. At the cellular level, MELF2 is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle.
Nucleus
Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin
Cell membrane
Glycogen storage disease 9D
A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria.
Variantes genéticas (ClinVar)
413 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 15,028 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
39 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença de armazenamento de glicogênio
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença de armazenamento de glicogênio
Centros para Doença de armazenamento de glicogênio
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Outros ensaios clínicos
221 ensaios clínicos encontrados, 16 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.336
Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.
Glycogen storage disease type Ia (GSD Ia) is a rare autosomal recessive inherited disorder of carbohydrate metabolism, caused by a deficiency in glucose 6-phosphatase-α (G6PC1). Patients primarily suffer from failure to thrive, hepatomegaly, and severe fasting intolerance, biochemically characterized by hypoketotic, hypoglycemia, and hyperlipidemia. Because of clinical and biochemical heterogeneity, identifying biomarkers is imperative for prognosis and monitoring. An untargeted proteomics workflow was employed for identifying protein changes in liver and plasma from hepatocyte-specific G6pc knockout mice under fed and fasted conditions. This links the effect of hepatic G6Pase/G6pc deficiency to circulating protein biomarkers and allows assessment of the relationship with different clinical circumstances and long-term complications. In the liver, the main differences between hepatic GSD Ia mice versus controls were observed in proteins related to carbohydrate and lipid metabolism, proteasome, ribosome, NAD+ metabolism, and mitochondria. In GSD Ia mouse plasma, proteins were mainly down-regulated in the complement and coagulation cascades. Effects in hepatic GSD Ia mice were in general more pronounced under fasting conditions. Several potential biomarkers that showed significant alterations in both liver and plasma were identified. These include proteins involved in carbohydrate and lipid metabolism (e.g., UGP2, ALDOB, and FASN), complement and coagulation cascades (SERPINA1E, C8b, and MBL2), 20S proteasome subunits (PSMA4, PSMA7, and PSMB5), and the electron transport chain (SDHA). Their consistent changes observed in both the liver and circulation indicate their potential as circulating biomarkers reflecting liver condition. Together with their reported associations with liver diseases, we hypothesize that they could monitor hepatic complications.
Longitudinal Motor Function Changes in Adults With Late-Onset Pompe Disease: Key Determinants and Clinical Thresholds.
Late-onset Pompe disease (LOPD) causes progressive muscle weakness, locomotor dysfunction, and postural instability, severely affecting quality of life. Longitudinal data on these changes remain limited. We quantified changes in muscle strength, locomotor performance, and postural control in adults with LOPD vs controls, aiming to identify the most sensitive motor parameters and determine key muscle contributors to locomotor and postural decline. We also defined clinically meaningful thresholds (minimal clinically important difference [MCID]) for sensitive parameters in LOPD. This longitudinal study evaluated motor functions over 2 years using instrumented and clinical assessments of lower limb strength, gait (performance and spatiotemporal parameters), and standing postural control (stability and orientation). Responsiveness was analyzed with effect size (α) after significance and with standardized response mean (SRM). Clinically meaningful changes were highlighted using MCID. Stepwise regressions identified key muscle predictors of locomotor and postural decline. Forty participants were included (20 with LOPD, 20 controls; mean age 58.0 ± 12.8 and 58.1 ± 9.1 years, respectively; 50% women). After 2 years, deterioration in participants with LOPD was observed in hip extensor and abductor strength, knee flexor strength, ankle plantar flexor strength, walking speed, single-limb stance gait phase, and postural sway velocity (all p < 0.009). While manual muscular testing showed no significant change, the most sensitive-to-change parameters were hip extensor and abductor strength assessed with a dynamometer and walking speed (α > 0.55; SRM > 0.75). The highest proportion of patients exceeding the MCID over 2 years was observed for hip abductor strength, ankle plantar flexor strength, and single-limb stance gait phase. Our results found significant deterioration in motor parameters in adults with LOPD. Hip muscle deterioration contributes directly to gait and stability decline while plantar flexors play a pivotal role in maintaining cautious gait and balance. The aim of this study was to identify sensitive-to-change parameters and MCID thresholds to provide clinicians with meaningful benchmarks to guide evaluations and interventions. Hip extensor and abductor strength (dynamometer) and walking speed emerged as the most responsive parameters, recommended for monitoring disease progression, optimizing rehabilitation, and assessing emerging treatments. Further studies are needed to confirm these findings in broader LOPD populations and evaluate treatment effects over longer periods.
Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions.
Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid alpha-glucosidase (GAA), leading to pathological glycogen accumulation in multiple tissues. This review synthesizes recent progress in understanding and managing Pompe disease, encompassing advances in newborn screening (NBS), novel biomarkers, next-generation enzyme replacement therapies (ERTs), gene therapy, and digital health technologies (DHTs) for monitoring. We also examine the associated economic burden and mortality patterns. Next-generation ERTs, including avalglucosidase alfa and cipaglucosidase alfa combined with miglustat, have improved outcomes and safety. Emerging strategies like transferrin receptor-mediated ERT and muscle-targeted adeno-associated virus (AAV) vectors show promise for overcoming current limitations, including central nervous system (CNS) involvement. DHTs enable sensitive detection of motor impairment even in presymptomatic stages. Despite progress, challenges remain in early detection, long-term management, and healthcare resource allocation. Future success requires integrated strategies combining NBS, innovative therapeutics, sensitive monitoring, and supportive policies. Hypertriglyceridemia (HTG) is often secondary to obesity-related insulin resistance (1,2), which is caused by excessive intake of fats and carbohydrates without compensatory utilization of these calories, but other common and rare causes should be considered (3,4,5). Genetic influences, gestational conditions, and nutrition in infancy and childhood contribute to HTG associated with formation of an atherogenic dyslipidemia profile consisting of high TG, low high-density lipoprotein-cholesterol (HDL-C), increased LDL particle number, smaller LDL size and density, and elevated apolipoprotein B. Very high TG levels generally result from defective disposal by lipoprotein lipase and can cause pancreatitis. Defining and treating the underlying cause are necessary to restore the lipids and lipoproteins to normal. Renal, hepatic, endocrine, immune, and pharmacological causes are in the differential diagnosis. Rare diseases such as lipodystrophy and glycogen storage disease are particularly challenging and require specific management strategies. Prevention of acute pancreatitis by lowering TG is a priority when TG is very high (> 1000 mg/dl), and lifestyle modification is the basis of management for all cases with high and moderately high levels. Since TG metabolism is associated with generation of an atherogenic dyslipidemia profile, predictors of coronary artery disease (CAD) such as LDL-C and non-HDL-C become targets when they exceed cut points. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG. Glycogen storage disease type VI (GSD VI) is characterized by hepatomegaly, ketotic hypoglycemia, growth deficiency, elevated hepatic transaminases, hyperlipidemia, and a low prealbumin level. GSD VI is usually a relatively mild disorder that presents in infancy and childhood; rare instances of more severe disease manifesting with recurrent hypoglycemia and marked hepatomegaly have been described. More common complications in the setting of suboptimal metabolic control include short stature, delayed puberty, osteopenia, and osteoporosis. Hepatic fibrosis commonly develops in GSD VI, but cirrhosis and hypertrophic cardiomyopathy are rare. Clinical and biochemical abnormalities may decrease with age, but ketosis and hypoglycemia can continue to occur. The diagnosis of GSD VI is established in a proband with characteristic clinical and laboratory findings and biallelic pathogenic variants in PYGL identified by molecular genetic testing. If molecular genetic testing cannot establish a diagnosis, analysis for hepatic glycogen phosphorylase activity deficiency can be considered on liver tissue biopsy. Targeted therapies: Treatment with a high-protein, low-carbohydrate diet and cornstarch improves growth and stamina and ameliorates biochemical abnormalities including hypoglycemia and ketosis. Even in those with no hypoglycemia, a bedtime dose of cornstarch and a high-protein diet improves energy and prevents ketosis. Supportive care: Frequent small meals (high in protein and low in carbohydrates); treatment of liver disease and hepatocellular carcinoma per hepatologist; calcium and vitamin D supplementation as needed for decreased bone density; treatment of impaired kidney function per nephrologist. Surveillance: Measure blood ketones and blood glucose concentrations at least several times per month and during times of stress including illness, intense activity, periods of rapid growth, or any time at which intake of food is reduced. Annual liver ultrasound beginning at age five years. Growth assessment at each visit until growth is complete; assessment of bone density exam when puberty is complete and as clinically indicated; assessment of motor development annually throughout childhood; 24-hour urine to screen for microalbuminuria annually. Agents/circumstances to avoid: Excessive amounts of simple sugars and a high-carbohydrate diet; glucagon administration as a rescue therapy for hypoglycemia; growth hormone therapy for short stature; contact sports when hepatomegaly is present. Evaluation of relatives at risk: Molecular genetic testing should be offered to at-risk sibs if the family-specific pathogenic variants are known. If the pathogenic variants in the family are not known, at-risk sibs should have fasting glucose and ketones assessed so that early treatment and avoidance of factors that exacerbate disease can be initiated. Pregnancy management: Vigilant monitoring for hypoglycemia and ketosis is important. Cornstarch and protein supplementation (2-4x/day) is used during pregnancy to maintain euglycemia and prevent ketosis and premature labor. Increasing protein intake may be necessary to provide an alternate substrate for gluconeogenesis. GSD VI is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a PYGL pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. If the PYGL pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.
Sodium taurocholate cotransporter polypeptide deficiency combined with novel PYGL mutations in glycogen storage disease type VI: a rare case report.
Both Sodium Taurocholate Cotransporting Polypeptide Deficiency (NTCPD) and Glycogen Storage Disease Type VI (GSD-VI) are autosomal recessive (AR) genetic disorders that affect liver metabolism in newborns. NTCPD is primarily caused by mutations in the Solute Carrier Family 10 Member 1 (SLC10A1) gene, resulting in decreased bile acid transport function, while GSD-VI is caused by mutations in the phosphorylase glycogen liver (PYGL) gene, leading to a deficiency of liver glycogen phosphorylase. Both diseases are rare, and there have been no previous reports of their coexistence in a single patient. This case report details the rare occurrence of NTCP and GSD-VI in a 2-year-11-month-old female child. The patient presented with mild jaundice, hepatomegaly, and growth retardation. After 1 year and 6 months of treatment and follow-up, the patient's liver function and growth showed significant improvement. This case highlights the importance of comprehensive genetic analysis in diagnosing complex metabolic disorders.
An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
Polyglucosan body myopathy type 1 (PGBM1) is a rare glycogen storage disorder characterized by the abnormal accumulation of polyglucosan bodies in various tissues, particularly skeletal muscle. Caused by pathogenic variants in the RBCK1 gene, PGBM1 presents significant diagnostic challenges due to its rarity and potentially cryptic genetic mechanisms. This report describes a 12-year-old boy presenting with progressive lower limb weakness. Muscle biopsy revealed polyglucosan myopathy changes, including PAS-positive, diastase-resistant inclusions predominantly within glycogen-depleted muscle fibers. A definitive molecular diagnosis was achieved through the integration of whole-genome sequencing and RNA sequencing, which uncovered an Alu mediated homozygous intergenic inversion involving exons 1-4 of the RBCK1 gene. Based on previously reported cases of RBCK1-related PGBM1 and our patient, we observed a recurrent recombination between the RBCK1 and TRIB3 genes. This suggests that the 20p13 region is a potential structural rearrangement hotspot.
Publicações recentes
Effects of Extended-Release Cornstarch Supplementation on Glycemic Stability and Metabolic Parameters in Korean Patients with Glycogen Storage Disease.
Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.
Case report of Glycogen Storage Disease Type XI with skin manifestations and novel LDHA mutation.
Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening.
Liver Biopsy-Associated Diagnosis of Glycogen Storage Disease Type IV (Andersen Disease).
📚 EuropePMC2.105 artigos no totalmostrando 198
Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report.
MedicineSuccessful multidisciplinary management of pregnancy in a woman with glycogen storage disease type IIIA.
Obstetric medicineThe Impact of Muscle Fatigue on McArdle Disease: A Case Report.
CureusMetabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.
Journal of clinical medicineUntargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.
Journal of inherited metabolic diseaseHepatic Glycogen Storage Diseases in Brazil: A Multicenter Study.
American journal of medical genetics. Part ALongitudinal Motor Function Changes in Adults With Late-Onset Pompe Disease: Key Determinants and Clinical Thresholds.
NeurologyComprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions.
Frontiers in neurologySodium taurocholate cotransporter polypeptide deficiency combined with novel PYGL mutations in glycogen storage disease type VI: a rare case report.
Clinics and research in hepatology and gastroenterologyGlycogen storage disease type Ia with a 17-year history of renal involvement: a case report.
Journal of medical case reportsDecoding genetic complexity in glycogen storage diseases: three novel variants in SLC37A4, GAA, and PHKG2 identified in an Iranian cohort.
Neuromuscular disorders : NMDClinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib.
JIMD reportsComparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data.
Journal of comparative effectiveness researchGlycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.
Molecular genetics and metabolism reportsAn Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
Human molecular geneticsCardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III.
Physiological reportsProteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.
Journal of translational medicineMapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI.
Translational research : the journal of laboratory and clinical medicineLessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Molecular genetics and metabolismCell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.
Genetics in medicine openGeneration and characterization of two human induced pluripotent stem cell lines from patients with Danon disease.
Stem cell researchThe kidney in genetic metabolic disorders.
Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.VEnzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.
Health technology assessment (Winchester, England)Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy.
Journal of health economics and outcomes researchA roadmap for a patient-centred approach to Pompe disease management.
Journal of neurologyFirst multicenter real-world analysis of switching to next-generation enzyme replacement therapies in late-onset Pompe disease.
Journal of neurology[A 14-year management of an early-onset female Danon disease carrier: analysis of family clinical phenotype and transplant efficacy].
Zhonghua xin xue guan bing za zhi[A case of infant Danon disease presenting with myocardial hypertrophy as the initial manifestation].
Zhonghua er ke za zhi = Chinese journal of pediatricsThe 'double hit' on dalbavancin pharmacokinetics: hypertriglyceridaemia and augmented renal clearance in a child with glycogen storage disease type Ib.
The Journal of antimicrobial chemotherapyHypercholesterolemia Successfully Treated With Two Different PCSK9 Inhibitors in a Patient With Glycogen Storage Disease IXd: Phosphorylase Kinase Deficiency.
Journal of lipid and atherosclerosisEnhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.
JHEP reports : innovation in hepatologyCorrelation of biochemical and imaging markers with hepatic adenoma in patients with glycogen storage disease: a retrospective single-center study.
Orphanet journal of rare diseasesClinically important improvements in 6-minute walk distance and forced vital capacity in adults with late-onset Pompe disease switching from alglucosidase alfa to cipaglucosidase alfa plus miglustat in the PROPEL study.
Neuromuscular disorders : NMDFeeding-regulated glycogen metabolism drives rhythmic liver protein secretion.
Nature metabolismUrinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.
Neuromuscular disorders : NMDLongitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease.
Disease models & mechanismsSafety of SGLT-2 inhibitors in patients with glycogen storage disease type Ib and their efficacy in treating disease-associated digestive symptoms and disorders.
Acta diabetologicaSuccessful heart transplantation in a patient with glycogen storage disease.
Oxford medical case reportsInsights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.
Frontiers in immunologyCHK1 inhibition rescues abnormal glycogen buildup in a Caenorhabditis elegans model for glycogen storage disease III.
Communications biologyA comprehensive study on the effect of alglucosidase alpha and immunomodulation on survival, motor and cardiac outcome, creatine kinase and antibody titers in classic infantile Pompe disease: the Monza experience.
Current opinion in immunologyEvaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood.
Sisli Etfal Hastanesi tip bulteniGlycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle.
Clinical case reportsDanon disease: Two case reports and literature review.
MedicineQuantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.
Journal of inherited metabolic diseaseGMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.
Journal of inherited metabolic diseaseIdentification of miRNAs Associated with Infantile-Onset Pompe Disease.
Molecular syndromologyAustrian Pompe Outcome Consensus (APOC): a national Delphi study.
Orphanet journal of rare diseasesCongenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation.
CEN case reportsNovel promoters drive therapeutic transgene expression and evade transgene-specific immune responses in a mouse model of Pompe disease.
Molecular genetics and metabolismPlasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.
EBioMedicineIntegrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report.
Molecular genetics and metabolism reportsGlycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP).
BMJ case reportsLate-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology.
Antioxidants (Basel, Switzerland)Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease.
International breastfeeding journalRecommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.
NeurologiaEvaluation of Experienced Clinical Events in Pompe Disease Based on Real-life Data.
NeuropediatricsClinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.
Orphanet journal of rare diseasesThe biochemical dynamics of the glycogen phosphatase laforin directly impact brain metabolism.
The Journal of biological chemistryNew advances in treating late-onset Pompe Disease: A narrative review.
European journal of pediatricsBiopsy-Proven Reversal of F4 Cirrhosis in Classic Hepatic Glycogen Storage Disease Type IV: A 42-Year Follow-Up Without Transplantation.
Hepatology research : the official journal of the Japan Society of HepatologyNeutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.
European journal of medicinal chemistryGlucose-6-phosphate transporter deficiency (GSD type Ib) in an infant with an ominous outcome.
BMJ case reportsSystemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease Type IV.
The American journal of pathologyLactate-induced mitochondrial magnesium uptake and its metabolic implications in the McArdle disease model.
Biochimica et biophysica acta. Molecular basis of diseaseIdentification of a novel nonsense mutation in the AGL gene in glycogen storage disease type IIIa: first genetically confirmed case report from Morocco.
Molecular biology reportsStructures of human glucose-6-phosphate transporter reveal reciprocal antiport mechanism driving glucose-6-phosphate and inorganic phosphate exchange.
Nature communicationsMisdiagnosis of 99mTc-PYP-positive Danon disease as ATTR-CA: a case report and molecular imaging pitfalls.
BMC cardiovascular disordersPersistent Activation of Renal Autophagy Contributes to Nephropathy in Murine Glycogen Storage Disease Type Ia.
Journal of inherited metabolic diseaseUpdate on glycogen storage disease: a brief review of the main disorders.
Cellular and molecular biology (Noisy-le-Grand, France)Focused ultrasound delivery of enzyme replacement therapy to the brain of Gaa-/- Pompe disease mice.
Molecular genetics and metabolismA respiratory signature of disease progression in the Pompe rat.
Journal of neurophysiology[A Comprehensive Review on Glycogen Storage Disease: Molecular Mechanisms, Diagnosis, and Treatment Strategies].
Jugan geon-gang gwa jilbyeongEnzyme Replacement Therapy & Other Therapeutic Frontiers in Infantile Metabolic Disorders.
NeoReviewsLate-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.
Orphanet journal of rare diseasesPredicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.
Molecular genetics and metabolismCan Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapyCipaglucosidase alfa plus miglustat in Pompe disease: two non-ambulatory patients switching from high‑dose, high-frequency alglucosidase alfa.
Neuromuscular disorders : NMDThe cost-effectiveness of enzyme replacement therapies versus best supportive care for treating late onset Pompe disease in the UK NHS.
The European journal of health economics : HEPAC : health economics in prevention and carePresymptomatic late-onset Pompe disease: Optimizing the timing of treatment.
Revue neurologiqueCardiac MRI in Danon's Disease-A Phenocopy of Hypertrophic Cardiomyopathy in Young Adults.
Echocardiography (Mount Kisco, N.Y.)Bridge to heart transplantation with nearly 800-day intracorporeal biventricular assistance in a pediatric patient with Danon disease: a case report.
Journal of artificial organs : the official journal of the Japanese Society for Artificial OrgansWhen Fatigue Hides A Metabolic Myopathy: A Case Report of Mcardle Disease with Molecular Diagnosis.
European journal of case reports in internal medicineStructural basis of glucose-6-phosphate transport by human SLC37A2.
Nature structural & molecular biologyStructural basis of G6P/Pi transport and inhibition in SLC37A4.
Nature structural & molecular biologyLiver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.
Science advancesNoninfectious endocarditis as a novel cardiac manifestation of glycogen storage disease type IV: a case report.
Translational pediatricsPHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.
NPJ genomic medicineBeyond the Usual Suspects: Unexplained Childhood Hemolytic Anemia with Myopathy Unveiled as Glycogen Storage Disease Type XII.
Turkish journal of haematology : official journal of Turkish Society of HaematologyRe-anchoring the Value of Innovative Therapies in NICE Decision Making When Comparators are Cost Ineffective: A Case Study of Late-Onset Pompe Disease.
PharmacoEconomicsClinical utility of untargeted urine oligosaccharide screening.
Molecular genetics and metabolismMedical expenses and care pathways of patients with Pompe receiving myozyme: an observational study based on the French national healthcare database.
Orphanet journal of rare diseasesUnfolding the genetic map of monogenic liver diseases in Egypt.
Human geneticsAnaesthetic Management of Advanced Late-Onset Pompe Disease: Challenges in a Major Abdominal Surgery.
CureusCauses of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study.
European journal of neurologyStructural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.
Nature communicationsProtein glycosylation and synaptic transmission: brain glycogen keeps them separated.
Brain : a journal of neurologyNovel murine model provides insights into early-onset of kidney disease in glycogen storage disease type Ib.
Molecular genetics and metabolismUrinary tetraglucoside excretion as a biomarker in liver glycogen storage diseases.
Molecular genetics and metabolismLow-carbohydrate ketogenic diet in Mc Ardle's disease: a single-blinded randomized controlled trial.
Journal of neurologyQuantification of muscle glycogen distribution in Pompe disease using 7 Tesla 13C NMR spectroscopy.
Journal of neurology, neurosurgery, and psychiatryReduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease.
Genetics in medicine : official journal of the American College of Medical Genetics[A case report of glycogen storage disease type III combined with Guillain-Barré syndrome and literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsGlycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report.
BMC pregnancy and childbirthMolecular profiling in paediatric hepatocellular adenomas: phenotypic correlations and clinical significance.
HistopathologyLong-Term Correction of Murine Glycogen Storage Disease Type III by AAV-Mediated Gene Therapy Using an Immunotolerizing Dual Promoter to Express Bacterial Pullulanase.
Advances in cell and gene therapyGrowth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study.
BMC pediatrics[Neuromuscular diseases in pediatrics with specific treatments].
MedicinaEfficacy and safety of empagliflozin for treating neutropenia and neutrophil dysfunction in paediatric patients with glycogen storage disease type Ib: A systematic review and meta-analysis.
British journal of clinical pharmacologyMultidisciplinary Management and Individualized Care in Pregnancy with Fanconi-Bickel Syndrome: A Case Report and Review of the Literature.
International medical case reports journalImprovement of Symptoms in a Patient With Glycogen Storage Disease Through Nutritional Guidance and Exercise Therapy.
JCEM case reportsQuantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Molecular genetics and metabolismInfantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.
Genetics in medicine : official journal of the American College of Medical GeneticsPerson-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set.
Genetics in medicine : official journal of the American College of Medical GeneticsGlycogen Storage Disease Type III: The Critical Role of Cardiac MRI in Detecting Insidious Progression.
Radiology. Cardiothoracic imagingUmbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population.
International journal of neonatal screeningNavigating Glycogen Storage Disease: The Spiritual and Cultural Journeys of Jordanian Mothers.
Journal of religion and healthDanon disease: From genetic origins and molecular defects to therapeutic advances.
Disease-a-month : DMA disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease.
Journal of pediatric endocrinology & metabolism : JPEMPathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.
Journal of inherited metabolic diseaseC-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.
Journal of medicinal chemistryIdentification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy.
Molecular genetics and metabolismHigh-potency MyoAAV capsids enhanced skeletal muscle correction in a mouse model of GSD IIIa.
Molecular therapy. Methods & clinical developmentTherapeutic acute intermittent hypoxia modestly improves breathing in Pompe disease.
Respiratory physiology & neurobiologyCase Report: Perioperative Management of a Patient with Glycogen Storage Disease Type IXd.
Surgical case reportsAn Indirect Treatment Comparison of Avalglucosidase Alfa versus Cipaglucosidase Alfa Plus Miglustat in Patients with Late-Onset Pompe Disease.
Advances in therapyMarked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease.
American journal of medical genetics. Part ANavigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights From Parental Perspectives.
Pediatric neurologyInfant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3.
Case reports in geneticsDanon Disease Diagnosed by Multimodal Imaging: A Case Report.
Journal of clinical ultrasound : JCUGeneration and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II.
Stem cell researchA retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United States.
Journal of medical economicsLAMP2 variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort.
Cardiology in the youngSex-Specific Cardiac Magnetic Resonance Phenotypes in Danon Disease: A Retrospective Cohort Study.
Journal of magnetic resonance imaging : JMRIIdentification of a Pathogenic Mutation for Glycogen Storage Disease Type II (Pompe Disease) in Japanese Quails (Coturnix japonica).
GenesMolecular Screening of Feline Glycogen Storage Disease Type II (Pompe Disease): Allele Frequencies of the GAA:c.1799G>A and c.55G>A Variants.
GenesBiparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.
International journal of molecular sciencesLiver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia.
JCEM case reportsHepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum.
World journal of clinical pediatricsThe 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness.
Epilepsy & behavior : E&BGlucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum.
Hormones (Athens, Greece)Hypogonadotropic hypogonadism in male patients with glycogen storage disease type 1a (GSD-1a): A different treatment approach.
Medicina clinicaAn uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease.
Italian journal of pediatricsAvascular necrosis as an uncommon manifestation in glycogen storage disease type III: diagnostic and therapeutic challenges.
Oxford medical case reportsEnzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis.
Orphanet journal of rare diseasesLiver Transplantation in Childhood: A 2-Year Single Center Experience.
Transplantation proceedingsMetabolic, pathological, and genetic analyses of foals neonatal foals that died in Noma horses.
Journal of equine science[Efficacy and safety of empagliflozin in the treatment of glycogen storage disease-associated inflammatory bowel disease].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics[Application of active glucose monitoring in the perioperative period of gastrointestinal endoscopy in children with glycogen storage disease type Ⅰb].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsInteraction between neuromuscular junction metabolic requirements in fragile X syndrome and glycogen storage disease models.
Disease models & mechanismsEfficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.
Journal of neurologyIs primary hemostasis involved in bleeding diathesis in patients with type 1 glycogen storage disease?
Thrombosis researchExtensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease.
Scientific reportsCongenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy.
BMJ case reportsHeat-Modified Cornstarch by a Homemade Process with Glucose Extended-Release for Possible Dietary Treatment of Glycogen Storage Diseases.
Journal of medicinal foodLupus hepatitis as the primary cause: a retrospective analysis of liver biopsy in systemic lupus erythematosus with unexplained liver function abnormalities from two centers in Southern China.
Clinical rheumatologyHypoglycemic Seizure: Etiologies and Neurological Outcome in Two Differential Age of Children (Five Year Descriptive Study).
Iranian journal of child neurologyFirst evaluation of fibroblast growth factor 21 levels in patients diagnosed with glycogen storage diseases with liver involvement.
Journal of pediatric endocrinology & metabolism : JPEMClinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.
European journal of pediatricsEfficacious genome editing in infant mice with glycogen storage disease type Ia.
JCI insightClinical features and rare complications in 132 patients with hepatic glycogenosis.
Orphanet journal of rare diseasesPhysical exercise in metabolic myopathies at risk of rhabdomyolysis: a feasible approach or an unavoidable hazard?
European journal of applied physiologyClinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
PloS oneAutophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.
Journal of neuropathology and experimental neurology[Modified Atkins diet in the treatment of a glycogen storage disease type Ⅲ patient].
Zhonghua er ke za zhi = Chinese journal of pediatricsExpert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.
Turkish journal of medical sciencesLong-Term Functional Correction of Pompe Disease and Increased α-Glucosidase Expression after Gene Therapy with Novel Combinations of Muscle-Targeted Transcriptional Cis-Regulatory Elements.
Human gene therapySplice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.
Nucleic acids researchA peculiar case of persistent CPK elevation in a person diagnosed with acute HIV: what is behind?
HIV research & clinical practiceThe induced-fit and catalytic mechanisms of human G6PC1.
Cell discoveryResults of orthodontic procedure in a patient with classic infantile Pompe disease.
Italian journal of pediatricsAnalysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.
Journal of neurologyThe Wnt/β-catenin signaling pathway mediates renal fibrosis in glycogen storage disease type Ib nephropathy.
Biochimica et biophysica acta. Molecular basis of diseaseManagement strategy for congenital hyperinsulinism with atrial septal defect and diazoxide-induced pulmonary hypertension.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyCase Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.
Frontiers in geneticsA novel sequence of the PHKG2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature.
Journal of medical case reportsThe Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant.
JIMD reportsPompe Disease: Current State and Future Treatments.
Cardiology in reviewMultiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.
Scientific reportsMolecular architecture and catalytic mechanism of human glycogen debranching enzyme.
Nature communicationsClinical characteristics of 50 hepatocellular adenoma patients among 164 cases of glycogen storage disease type Ia.
European journal of pediatricsAAV9-Mediated Gene Therapy for Infantile-Onset Pompe's Disease.
The New England journal of medicineDermatitis herpetiformis successfully treated with dupilumab.
JAAD case reportsClinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.
Molecular diagnosis & therapyThe Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B).
American journal of medical genetics. Part AProgress and Criteria in Public Health Applications of Gene Therapy and Gene Editing: Beyond the White Paper.
Public health genomicsClinical and therapeutic clues from a long-term follow-up: a single center experience on a large LOPD population.
Journal of neurologyPlacenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and Preeclampsia.
JIMD reportsNeonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.
Molecular therapy : the journal of the American Society of Gene TherapyA South Asian Indian PRKAG2 patient-derived induced pluripotent stem cell (iPSC) line to model glycogen storage-associated hypertrophic cardiomyopathy.
Stem cell researchAn Assessment of Dietary Intake, Feeding Practices, Growth, and Swallowing Function in Young Children with Late-Onset Pompe Disease: A Framework for Developing Nutrition Guidelines.
NutrientsFeeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening Tool.
NutrientsUnexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing.
The NeurohospitalistCardiovascular involvement in glycogen storage diseases.
Nature reviews. CardiologyEnzyme replacement therapies in adults with Pompe disease: from trials to real-world data.
Current opinion in neurologyCell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.
bioRxiv : the preprint server for biologyInvestigating the Secondary Care System Burden of Glycogen Storage Disease Type Ia (GSDIa) Using the Hospital Episode Statistics Database.
Journal of health economics and outcomes researchThe Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.
- Longitudinal Motor Function Changes in Adults With Late-Onset Pompe Disease: Key Determinants and Clinical Thresholds.
- Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions.
- Sodium taurocholate cotransporter polypeptide deficiency combined with novel PYGL mutations in glycogen storage disease type VI: a rare case report.
- An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
- Effects of Extended-Release Cornstarch Supplementation on Glycemic Stability and Metabolic Parameters in Korean Patients with Glycogen Storage Disease.
- Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.
- Case report of Glycogen Storage Disease Type XI with skin manifestations and novel LDHA mutation.
- Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening.
- Liver Biopsy-Associated Diagnosis of Glycogen Storage Disease Type IV (Andersen Disease).
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79201(Orphanet)
- MONDO:0002412(MONDO)
- Doenca de Pompe(PCDT · Ministério da Saúde)
- GARD:18973(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1421738(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
