Glicogenose devido à deficiência de glicose-6-fosfatase (G6P) tipo a, ou doença de armazenamento de glicogênio (GSD) tipo 1a, é um tipo de glicogenose devido à deficiência de G6P.
Introdução
O que você precisa saber de cara
Glicogenose devido à deficiência de glicose-6-fosfatase (G6P) tipo a, ou doença de armazenamento de glicogênio (GSD) tipo 1a, é um tipo de glicogenose devido à deficiência de G6P.
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
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 31 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
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.
Variantes genéticas (ClinVar)
200 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 575 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 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 por deficiência de glicose-6-fosfatase tipo 1A
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença de armazenamento de glicogênio por deficiência de glicose-6-fosfatase tipo 1A
Centros para Doença de armazenamento de glicogênio por deficiência de glicose-6-fosfatase tipo 1A
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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Publicações mais relevantes
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.
Persistent Activation of Renal Autophagy Contributes to Nephropathy in Murine Glycogen Storage Disease Type Ia.
Kidney disease in glycogen storage disease type Ia (GSD-Ia), deficient in glucose-6-phosphatase-α (G6Pase-α), is associated with acute kidney injury (AKI) and renal fibrosis. During AKI, autophagy is typically activated to eliminate protein aggregates and damaged organelles; however, sustained autophagy can contribute to maladaptive repair and fibrosis. Using a GSD-Ia mouse model, we demonstrate that renal G6Pase-α deficiency results in heightened autophagy activation, as indicated by increased expression of multiple autophagy-related components and enhanced autophagic flux. Notably, both positive regulators of autophagy, including sirtuin-1, forkhead box O3a, and AMP-activated protein kinase, as well as the key negative regulator, mammalian target of rapamycin (mTOR), were concurrently activated in the kidneys of GSD-Ia mice. Previous studies have shown that in response to AKI, renal levels of cyclin G1 (CG1) and cyclin-dependent kinase 5 (CDK5) increase, promoting maladaptive dedifferentiation, G2/M cell cycle arrest in proximal tubular epithelial cells, and the formation of a TOR-autophagy spatial coupling compartment. This sequence of events contributes to profibrotic factor production and accelerates the progression of kidney disease. In this study, we observed a significant elevation of renal CG1 and CDK5 in GSD-Ia mice with enhanced autophagy, suggesting a potential mechanistic link to the development of renal fibrosis in GSD-Ia. A deeper understanding of these pathways may facilitate the development of targeted therapies for GSD-Ia nephropathy.
Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report.
Glycogen storage disease type Ia (GSD Ia) typically presents with fasting hypoglycemia and hyperlipidemia. Atypical infantile presentations can delay diagnosis. We report an infant with extreme hypertriglyceridemia ultimately diagnosed as GSD Ia. A 5-month-old girl presented with poor appetite, growth retardation, hepatomegaly, and extreme hypertriglyceridemia (72 mmol/L), hypercholesterolemia, elevated transaminases, hyperuricemia, and hyperlactatemia, but initial normal blood glucose. Initial differentials included familial hypertriglyceridemia, but metabolic screening was normal. Whole-exome sequencing confirmed GSD Ia with compound heterozygous G6PC mutations (c.648G>T and c.814G>T). Initial lipid-lowering (low-fat diet, fenofibrate, omega-3, plasma exchange) reduced triglyceride. Post-diagnosis, she received lactose-free formula with frequent feeds and nocturnal nutrition; uncooked cornstarch was introduced at 6 months, though adherence was initially poor. Metabolic control was unstable until age 2 due to poor adherence. After 24 months of structured cornstarch therapy, fasting glucose normalized (4.2-6.6 mmol/L), triglycerides decreased (1.8-6.7 mmol/L), and catch-up growth occurred (height Z-score from -3.9 to -2.2 by 36 months). GSD Ia should be considered in infantile extreme hypertriglyceridemia with growth retardation, even without classic hypoglycemia. Sustained metabolic control requires multidisciplinary strategies addressing both biochemical and adherence barriers.
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study.
To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (12 IIIa, 1 IIIb), 1 (0.8%) type IV, 6 (4.5%) type VI, and 49 (37.1%) with type IX (28 IXa, 7 IXb, and 14 IXc). Type I patients presented earlier (4 months) and had more episodes of hypoglycemia at clinical presentation (p < 0.001). Anthropometric data at admission revealed impaired growth, with a tendency toward short stature across the groups (median -2.06, -1.89, and -1.96 among type I, III, and IX respectively). The median body mass index (BMI) z-scores at admission for all three types were above +1. Only patients with type IX demonstrated significant improvement in height (p = 0.007) and BMI (p = 0.020) z-scores during follow-up. Regarding laboratory tests, significant decreases were observed in total cholesterol, triglycerides, venous lactate and aminotransferases in patients with types I and IX. Hepatic GSDs are heterogeneous diseases. There is a significant height impairment with a troublesome trend to overweight and obesity, especially in type I. Although there is improvement in aminotransferases, cholesterol, and triglycerides with follow-up, adherence to treatment remains a challenge.
Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.
Glycogen Storage Disease (GSD) Types Ia and Ib are rare metabolic diseases caused by gene variants in G6PC1 and SLC37A4, respectively. Although life-threatening fasting hypoglycemia can be controlled by a strict diet, patients often suffer from multiple metabolic abnormalities and severe long-term complications. However, the underlying mechanisms remain incompletely understood, and there is a lack of effective monitoring biomarkers. Therefore, the aims of this study are to investigate the pathological mechanisms of the disease and disease complications in GSD I and identify potential protein biomarkers. Comprehensive untargeted proteomics was performed on 18 GSD Ia and 8 GSD Ib sera samples from patients with 21 matched control sera, complemented by liver 3 GSD Ia samples and 1 GSD Ib sample from patient liver tissues, compared to 10 donor liver samples. We identified 415 proteins in total. Significantly changed (FDR < 0.05) were observed in 158 (38%) proteins for GSD Ia vs Control, 116 (28%) for GSD Ib vs. Control, and 151 (36%) for GSD Ia vs. Ib. Pathway analysis revealed distinct alterations in serum/plasma, with 58, 32, and 29 significantly changed biological processes (FDR < 0.05) in these three comparisons, respectively. The coagulation pathway was the most significantly changed one in the GSD Ia patients. Immune response-associated proteins, especially immunoglobulins, were increased in GSD Ib specifically. Proteins related to liver injury, cholesterol, and amyloidosis were altered in two subtypes, though more pronounced in GSD Ia. Potential biomarkers with significant alterations both in the circulation and in the liver tissue were identified specifically for monitoring GSD I subtypes and prognosing liver deterioration, namely APOC1 and CD5L to distinguish between GSD Ia and Ib and ALDOB for the presence of hepatocellular carcinoma (HCC) in GSD Ia patients. These findings provide new insights into the differences between the two GSD I subtypes and the pathogenesis of GSD I-related complications, as well as highlighting the potential of protein circulating biomarkers for monitoring complication progression in GSD I and assessing HCC risk in GSD Ia patients. The online version contains supplementary material available at 10.1186/s12967-026-07747-5.
Publicações recentes
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.
Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation.
Persistent Activation of Renal Autophagy Contributes to Nephropathy in Murine Glycogen Storage Disease Type Ia.
Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.
Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.
📚 EuropePMCmostrando 122
Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report.
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 AProteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.
Journal of translational medicinePersistent Activation of Renal Autophagy Contributes to Nephropathy in Murine Glycogen Storage Disease Type Ia.
Journal of inherited metabolic diseaseGlycogen storage disease type Ia complicated by gestational hypertriglyceridemic pancreatitis: A rare case report.
BMC pregnancy and childbirthLiver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia.
JCEM case reportsEfficacious genome editing in infant mice with glycogen storage disease type Ia.
JCI insightThe Wnt/β-catenin signaling pathway mediates renal fibrosis in glycogen storage disease type Ib nephropathy.
Biochimica et biophysica acta. Molecular basis of diseaseMultiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia.
Scientific reportsClinical characteristics of 50 hepatocellular adenoma patients among 164 cases of glycogen storage disease type Ia.
European journal of pediatricsLiver-Directed Gene Therapy Mitigates Early Nephropathy in Murine Glycogen Storage Disease Type Ia.
Journal of inherited metabolic diseaseLaparoscopic Liver Resection for Hepatocellular Adenomas in Pediatric Glycogen Storage Disease Type Ia: A Case With Consideration for Future Transplantation.
Asian journal of endoscopic surgerySafety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
Journal of inherited metabolic diseaseKidney involvement in glycogen storage disease type I: Current knowledge and key challenges.
Molecular genetics and metabolism[Clinical analysis and follow-up outcomes of 25 pediatric cases with hepatic glycogen storage disease].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyA machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles.
Orphanet journal of rare diseasesBase-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.
Nature communicationsPrecision-cut liver slices as an ex vivo model to assess impaired hepatic glucose production.
Communications biologyEndocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes AssociationA specific serum lipid signature characterizes patients with glycogen storage disease type Ia.
Journal of lipid researchPotential use of other starch sources in the treatment of glycogen storage disease type Ia - an in vitro study.
Orphanet journal of rare diseasesScreening and surveillance of hepatocellular carcinoma by serum des-gamma-carboxy prothrombin in patients with glycogen storage disease type Ia.
JIMD reportsA case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.
BMC medical genomicsGenotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
Clinical geneticsGlycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.
GenesEfficient and reproducible generation of human induced pluripotent stem cell-derived expandable liver organoids for disease modeling.
Scientific reportsMutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.
PloS oneA splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T.
The Journal of clinical investigationEndogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by Oral D-[6,6-2H2]-glucose.
The Journal of clinical endocrinology and metabolismInhibition of Wnt/β-catenin signaling reduces renal fibrosis in murine glycogen storage disease type Ia.
Biochimica et biophysica acta. Molecular basis of diseaseCRISPR/Cas9-based double-strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type-Ia.
Journal of inherited metabolic diseaseGene therapy for glycogen storage diseases.
Journal of inherited metabolic diseaseBedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia.
Molecular genetics & genomic medicineBlood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Journal of inherited metabolic diseaseGene therapy and genome editing for type I glycogen storage diseases.
Frontiers in molecular medicineImpact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test.
Molecular genetics and metabolism reportsRecurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report.
MedicineCytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
Cytokine[Clinical characteristics and genetic analysis of a Chinese pedigree affected by glycogen storage disease type Ia with gout as the first manifestation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsBody composition in patients with hepatic glycogen storage diseases.
Nutrition (Burbank, Los Angeles County, Calif.)A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets.
The Journal of clinical endocrinology and metabolismDevelopment of minimally invasive 13C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia.
Molecular genetics and metabolism reportsGlycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
European journal of medical geneticsSecondary diabetes as a rare complication of glycogen storage disease 1a: case report and review of literature.
Pediatric endocrinology, diabetes, and metabolismExosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients.
International journal of molecular sciencesClinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan.
Journal of pediatric endocrinology & metabolism : JPEMGlycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
NutrientsGlycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation.
The Kobe journal of medical sciencesSensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism.
International journal of pediatric otorhinolaryngologyModifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study.
Orphanet journal of rare diseasesGlycogen storage disease type I patients with hyperlipidemia have no signs of early vascular dysfunction and premature atherosclerosis.
Nutrition, metabolism, and cardiovascular diseases : NMCDPolyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A).
Animal geneticsImpact of glycogen storage disease type I on adult daily life: a survey.
Orphanet journal of rare diseasesA Multidisciplinary Approach for Tophi Wounds Caused by Glycogen Storage Disease Type 1a: A Rare Case.
Advances in skin & wound careNeurological Characteristics of Pediatric Glycogen Storage Disease.
Frontiers in endocrinologyHepatocyte-specific glucose-6-phosphatase deficiency disturbs platelet aggregation and decreases blood monocytes upon fasting-induced hypoglycemia.
Molecular metabolismA triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.
Orphanet journal of rare diseasesImpaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia.
Journal of inherited metabolic diseaseSGLT2 inhibition alleviated hyperglycemia, glucose intolerance, and dumping syndrome-like symptoms in a patient with glycogen storage disease type Ia: a case report.
Journal of medical case reportsANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo[Advances on the management of renal lesion in glycogen storage disease type I].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyLipid status and linear relationship between total cholesterol and triglycerides in glycogen storage disease type I.
European review for medical and pharmacological sciencesA case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature.
MedicineSuccessful treatment of diabetes associated with glycogen storage disease type Ia.
Diabetic medicine : a journal of the British Diabetic AssociationEmerging roles of autophagy in hepatic tumorigenesis and therapeutic strategies in glycogen storage disease type Ia: A review.
Journal of inherited metabolic diseaseAn infant presenting with extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia.
Journal of pediatric endocrinology & metabolism : JPEMGene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia.
Biochemical and biophysical research communicationsNovel variants in Turkish patients with glycogen storage disease.
Pediatrics international : official journal of the Japan Pediatric SocietyPapillary renal cell carcinoma in two young adults with glycogen storage disease type Ia.
JIMD reportsPredominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
Orphanet journal of rare diseasesThe signaling pathways implicated in impairment of hepatic autophagy in glycogen storage disease type Ia.
Human molecular geneticsUse of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study.
Molecular genetics and metabolism reportsFenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.
Human molecular geneticsGlycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels.
Human molecular geneticsActivation of tumor-promoting pathways implicated in hepatocellular adenoma/carcinoma, a long-term complication of glycogen storage disease type Ia.
Biochemical and biophysical research communicationsCornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review.
Journal of inherited metabolic diseaseA Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.
Thyroid : official journal of the American Thyroid AssociationA patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.
BMC medical geneticsMolecular diagnosis of glycogen storage disease type I: a review.
EXCLI journalGlycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.
Molecular genetics and metabolismAn evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.
Journal of inherited metabolic diseaseGene therapy prevents hepatic tumor initiation in murine glycogen storage disease type Ia at the tumor-developing stage.
Journal of inherited metabolic diseaseBezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.
Human molecular geneticsDietary exacerbation of metabolic stress leads to accelerated hepatic carcinogenesis in glycogen storage disease type Ia.
Journal of hepatologyIntracellular lipids are an independent cause of liver injury and chronic kidney disease in non alcoholic fatty liver disease-like context.
Molecular metabolismLong-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.
Journal of inherited metabolic diseaseDisturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control.
Molecular genetics and metabolismLong-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia.
Journal of inherited metabolic diseaseHemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease.
Journal of pediatric hematology/oncologyMolecular biology and gene therapy for glycogen storage disease type Ib.
Journal of inherited metabolic diseaseA preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring.
Journal of inherited metabolic diseaseHepatic glucose-6-phosphatase-α deficiency leads to metabolic reprogramming in glycogen storage disease type Ia.
Biochemical and biophysical research communicationsGlycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas.
Hepatology (Baltimore, Md.)Effect of VSL#3 Probiotic in a Patient with Glycogen Storage Disease Type Ia and Irritable Bowel Disease-like Disease.
Probiotics and antimicrobial proteinsInsulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Journal of inherited metabolic diseaseLate presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly.
Journal of pediatric endocrinology & metabolism : JPEMDiabetes mellitus in a patient with glycogen storage disease type Ia: a case report.
Journal of medical case reportsRenal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia.
Molecular genetics and metabolismHepatocytes contribute to residual glucose production in a mouse model for glycogen storage disease type Ia.
Hepatology (Baltimore, Md.)Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
Clinical geneticsPrevention of complications in glycogen storage disease type Ia with optimization of metabolic control.
Pediatric diabetesDownregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia.
PLoS genetics3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.
Clinica chimica acta; international journal of clinical chemistryClinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
Journal of inherited metabolic diseaseMolecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
Journal of geneticsDownregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy.
Human molecular geneticsHepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa).
Scientific reportsGlycogen storage disease type Ia mice with less than 2% of normal hepatic glucose-6-phosphatase-α activity restored are at risk of developing hepatic tumors.
Molecular genetics and metabolismA pediatric patient with glycogen storage disease type IA and Castleman disease.
Pediatric blood & cancerMalignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report.
Molecular and clinical oncologyMolecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.
Molecular medicine reportsTophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.
Clinical rheumatologyLiver transplantation for adenomatosis: European experience.
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation SocietyIn Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA.
Molecular therapy : the journal of the American Society of Gene TherapySafety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I.
JIMD reportsGlycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
Orphanet journal of rare diseasesAlternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study.
Journal of inherited metabolic diseaseMice expressing reduced levels of hepatic glucose-6-phosphatase-α activity do not develop age-related insulin resistance or obesity.
Human molecular geneticsA pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study.
Orphanet journal of rare diseasesProgression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study.
The Journal of pediatricsLipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.
Journal of inherited metabolic diseaseAssociações
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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.
- Persistent Activation of Renal Autophagy Contributes to Nephropathy in Murine Glycogen Storage Disease Type Ia.
- Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report.
- Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study.
- Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers.
- Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation.
- Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.
- Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79258(Orphanet)
- OMIM OMIM:232200(OMIM)
- MONDO:0009287(MONDO)
- GARD:7864(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55998606(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