Introdução
O que você precisa saber de cara
A doença de Danon é uma doença metabólica. A doença de Danon é uma doença de armazenamento lisossômico e de glicogênio ligada ao cromossomo X, associada a cardiomiopatia hipertrófica, fraqueza da musculatura esquelética e deficiência intelectual. É herdada em um padrão dominante ligado ao cromossomo X.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 269 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 681 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
21 genes identificados com associação a esta condição.
Plays an important role in the degradation of dermatan and keratan sulfates
Lysosome
Mucopolysaccharidosis 7
A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS7 is an autosomal recessive form with a highly variable phenotype, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.
Multifunctional anion transporter that operates via two distinct transport mechanisms, namely proton-coupled anion cotransport and membrane potential-dependent anion transport (PubMed:15510212, PubMed:21781115, PubMed:22778404, PubMed:23889254). Electroneutral proton-coupled acidic monosaccharide symporter, with a sugar to proton stoichiometry of 1:1. Exports glucuronic acid and free sialic acid derived from sialoglycoconjugate degradation out of lysosomes, driven by outwardly directed lysosomal
Basolateral cell membraneCytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneLysosome membrane
Salla disease
Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and intellectual disability. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow.
Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins
Lysosome
Aspartylglucosaminuria
An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe intellectual disability manifesting from the age of two, coarse facial features and mild connective tissue abnormalities.
Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins
Lysosome
Galactosialidosis
A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, intellectual disability, neurologic deterioration, absence of visceromegaly, and long survival.
Lysosome
Mucopolysaccharidosis 4A
A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.
Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides
Lysosome
Mannosidosis, beta A, lysosomal
An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of intellectual disability in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes.
Hydrolyzes 6-sulfate groups in N-acetyl-d-glucosaminide units of heparin sulfate and keratan sulfate
Lysosome
Mucopolysaccharidosis 3D
A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Involved in the degradation of heparan sulfate
Lysosome
Mucopolysaccharidosis 3B
A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors
SecretedGolgi apparatus
Mucolipidosis type III complementation group C
Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild intellectual disability. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts.
Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment
Golgi apparatus membrane
Mucolipidosis type II
Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth.
Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins
Lysosome
Fucosidosis
An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.
Can hydrolyze a variety of glycan substrates containing terminal alpha-mannosidic linkages. Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues on oligosaccharides generated by N-glycoprotein degradation pathways
Lysosome lumenSecreted
Mannosidosis, alpha B, lysosomal
A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with intellectual disability, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities.
Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed
Cytoplasmic vesicleLate endosome membraneLysosome membraneEarly endosomeCytoplasmic vesicle, autophagosomeCytoplasmic vesicle, clathrin-coated vesicle
Mucopolysaccharidosis-plus syndrome
A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPSPS is an autosomal recessive form characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, intellectual disability, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure.
Catalyzes a step in lysosomal heparan sulfate degradation
Lysosome
Mucopolysaccharidosis 3A
A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.
Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate
Lysosome
Mucopolysaccharidosis 2
An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to intellectual disability and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without intellectual disability.
Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage
Lysosome membraneLysosome lumenCell membraneCytoplasmic vesicleLysosome
Sialidosis
Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, intellectual disability, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells.
Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans Has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cance
LysosomeCytoplasm, perinuclear region
GM1-gangliosidosis 1
An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life.
Lysosome
Mucopolysaccharidosis 1H
A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.
Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity)
LysosomeCell surface
Mucopolysaccharidosis 6
A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS6 is an autosomal recessive form characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities.
Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:21224894, PubMed:25931126). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubM
Endoplasmic reticulum lumen
Multiple sulfatase deficiency
A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.
Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase
Lysosome membrane
Mucopolysaccharidosis 3C
A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Medicamentos e terapias
Mecanismo: Transferrin receptor binding agent
Mecanismo: Growth hormone receptor agonist
Mecanismo: Interleukin-1 receptor antagonist
Mecanismo: Cannabinoid CB1 receptor negative allosteric modulator
Mecanismo: Atrial natriuretic peptide receptor B binding agent
Mecanismo: TNF-alpha inhibitor
Variantes genéticas (ClinVar)
567 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
30 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 lisossomal com envolvimento esquelético
Centros de Referência SUS
21 centros habilitados pelo SUS para Doença de armazenamento lisossomal com envolvimento esquelético
Centros para Doença de armazenamento lisossomal com envolvimento esquelético
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
Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.
Early treatment in late-onset Pompe disease (LOPD) increasingly depends on detecting subclinical muscle involvement. Quantitative muscle MRI (qMRI) has emerged as a promising tool in this context. We conducted a multicenter prospective study in LOPD patients (≥ 10-years-old), stratified into early-stage (Walton 0-1, FVC ≥ 80%) and symptomatic (Walton 2-6). Thigh MRIs were acquired at 3 T using T1-weighted and STIR sequences. Fat fraction (FF) and water T2 (wT2) were calculated in 11 different regions using 6-point Dixon and 17-echo multi-echo spin-echo acquisitions, respectively. Functional, respiratory, and patient-reported outcomes were assessed. The adductor magnus (AM)/rectus femoris (RF) FF ratio was evaluated for its discriminative power. wT2 was analyzed as a binary score per muscle (0 or 1), depending on whether its value exceeded the control mean plus two SD, and summed across 11 muscles to compute an individual wT2 involvement score (WIS). Thirty-three LOPD patients (16 early-stage; 17 symptomatic) and 34 controls were recruited. Thigh FF strongly correlated with clinical scales (ρ up to 0.86). ROC analysis identified AM as the best discriminator (AUC: 0.96, cut off ≥ 7.93%), with similar performance for the AM/RF ratio (AUC: 0.94). wT2 showed weaker correlation with clinical scores compared to FF; symptomatic patients had higher WIS compared to early-stage and controls. Thigh FF is a robust biomarker of disease severity. AM FF and the age-independent AM/RF FF are sensitive to early structural changes. A WIS > 3 may reflect symptomatic disease. If validated longitudinally, these qMRI parameters could help guide optimal timing of therapy initiation.
Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database.
Fabry disease (FD) is a rare multisystemic lysosomal storage disorder with diverse pediatric manifestations. This multicenter study analyzed 64 children with FD from the Chinese Children Genetic Kidney Disease Database following establishment of the first national pediatric FD multidisciplinary team (MDT) in April 2020, which expanded to 15 centers by January 2022. Median diagnostic age was 11.4 years in males and 9.4 years in females, with diagnostic delays of 4.4 and 4.0 years, respectively. Family screening accounted for most female diagnoses (72.2%), while 6.5% of males were incidentally detected during genetic testing for other diseases. Missense variants predominated (65.2% males, 66.7% females). Biochemically, males had markedly reduced α-Gal A activity (0.6 ±0.4 μmol/L/h), and most patients showed elevated globotriaosylsphingosine (Lyso-GL-3), including 87.0% of males and 83.3% of females. Neuropathic pain was the most common initial symptom (52.2% males, 27.8% females; median onset 8 years), primarily acroparesthesia (92.1% and 85.7%, respectively). Other frequent features included anhidrosis/hypohidrosis (58.7% males, 11.1% females). Multisystem involvement included cardiac (arrhythmia n = 11, left ventricular hypertrophy n = 3), pulmonary (obstructive airway disease in 24.2% of males), skeletal (low bone mineral density in 4/7 tested males), and renal manifestations (reduced glomerular filtration rate (GFR) in 3). Thirty-seven patients received enzyme replacement therapy at median ages of 12.9 years (males) and 11.7 years (females). This first nationwide pediatric FD cohort highlights substantial diagnostic delays and underscores the importance of MDT collaboration, family screening, and early recognition to improve outcomes in affected children.
Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.
Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a progressive accumulation of intralysosomal glycogen occurs in various tissues, causing smooth, cardiac and skeletal muscle involvement. When the age of onset of the disease is after the first year of life, it is called late-onset Pompe disease (LOPD). Weakness of the axial and proximal waist muscles and respiratory dysfunction are common manifestations. Enzyme replacement therapy (ERT) has been available for more than 15 years and is the standard treatment. This therapy changes the course of the disease, although the effectiveness of the treatment reduces over time. New enzyme therapies represent new treatment opportunities for patients with LOPD. Here we present updated recommendations from a group of experts in Pompe disease on the diagnosis, treatment and follow-up of LOPD patients, with the aim of providing a guide for the clinical management of the disease.
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
The clinical heterogeneity of type 1 Gaucher disease (GD1) underscores the limited correlation between the GBA1 genotype and phenotype. This study examined GD1 patients from the Spanish Gaucher Disease Registry carrying heterozygous GBA1 genotypes distinct from NM_000157: c.[1226A>G](N370S); [1448T>C](L444P). Among 374 patients with GD1, 195 (52.1%) had alternative heterozygous combinations, including variants corresponding to severe (37.9%) or moderate (42.1%) mutation, whereas only 20% patients harbored mild variants-all of them in combination with N370S. Descriptive statistics and predictive models based on logistic regression and decision trees were applied. Patients carrying N370S with a different L444P variant showed significantly higher rates of advanced bone disease (59.9%) compared to those with homozygous N370S (38.3%) or N370S; L444P (41.0%) (p = 0.002). Decision tree analysis identified the bone marrow burden score (S-MRI) as the strongest predictor of osteopenia/osteoporosis at diagnosis. Genotype also emerged as a key discriminator for Parkinson's disease: patients with non-N370S; L444P genotypes showed a markedly higher likelihood of developing Parkinsonism. Overall, GD1 patients with genotypes other than N370S; L444P present more severe phenotypes, particularly with greater skeletal involvement and neurological complications. These findings highlight the importance of genotype stratification and predictive modeling in improving risk assessment and clinical management in GD1.
Recent advances in mucopolysaccharidosis IVA treatment.
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare lysosomal storage disorder caused by mutations in the GALNS gene, resulting in N-acetylgalactosamine-6-sulfatase (GALNS) deficiency and accumulation of keratan sulfate and chondroitin-6-sulfate. MPS IVA primarily affects the skeletal system, leading to progressive dysplasia and multi-organ involvement. Although enzyme replacement therapy (ERT) with elosulfase alfa is currently the only approved treatment, its clinical benefit on bone pathology is limited due to rapid clearance and poor penetration into avascular cartilage. Strategies to enhance enzyme stability and targeting, such as PEGylated hydrogels and extracellular vesicles, have shown promise in enhancing the biodistribution and stability of GALNS, while pharmacological chaperones, including ezetimibe, pranlukast, and bromocriptine, seem to stabilize GALNS in vitro. Promisingly, gene therapy (GT) has demonstrated significant preclinical progress using adeno-associated virus (AAV), lentiviral (LV), and CRISPR/Cas9 platforms. For instance, AAV vectors employing bone-targeting peptides and tandem promoters improve skeletal manifestations in murine and rat models. Similarly, recent ex vivo LV-based GT studies have opened new avenues in the treatment of MPS IVA. Furthermore, CRISPR/nCas9-based strategies targeting safe harbor loci have successfully restored GALNS activity in MPS IVA fibroblasts and mouse models supporting the notion that gene editing may represent a potential therapeutic approach. On the other hand, antisense-based therapies using modified U7 small nuclear RNAs and circular RNAs offer novel approaches to correct pseudoexon activation from deep-intronic variants while expanding the therapeutic alternatives in MPS IVA. Importantly, recent evidence revealed that mitochondrial dysfunction in chondrocytes may contribute to the pathology of MPS IVA, uncovering new targets beyond GALNS enzyme activity recovery. This review highlights recent advances in the treatment of MPS IVA and discusses new directions to improve outcomes in MPS IVA treatment.
📚 EuropePMCmostrando 199
Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database.
Intractable & rare diseases researchQuantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.
Journal of inherited metabolic diseaseRecommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.
NeurologiaClinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants.
Molecular genetics and metabolism reportsLong-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA.
Current issues in molecular biologyBone involvement in Gaucher disease: Data from a North African registry.
Reumatologia clinicaLiver involvement in Gaucher disease type I: a retrospective single-center study from Ukraine.
Frontiers in medicineAnaesthetic Management of Advanced Late-Onset Pompe Disease: Challenges in a Major Abdominal Surgery.
CureusClinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
International journal of molecular sciencesTen-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania.
Journal of clinical medicineRecent advances in mucopolysaccharidosis IVA treatment.
Orphanet journal of rare diseasesMucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.
Journal of pediatric endocrinology & metabolism : JPEMEarly diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening.
Molecular genetics and metabolism reportsQuantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Molecular genetics and metabolismNeonatal gene therapy effectively prevents disease manifestations in a murine model of Mucopolysaccharidosis type I.
Molecular therapy. Methods & clinical developmentGene therapy ameliorates neuromuscular pathology in CLN3 disease.
Acta neuropathologica communicationsCardiovascular Gaucher Disease Type 3c Associated With Homozygous Asp448His GBA1 Variant: First Case Series From Kuwait.
American journal of medical genetics. Part AMucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis.
BMJ case reportsBilateral avascular necrosis: A rare complication of Fabry disease.
Molecular genetics and metabolism reportsClinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.
Cellular and molecular biology (Noisy-le-Grand, France)Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches.
Mammalian genome : official journal of the International Mammalian Genome SocietyHighlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.
International journal of molecular sciencesInsights into skeletal involvement in adult Gaucher disease: a single-center experience.
Journal of bone and mineral metabolismA Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.
Neuropathology and applied neurobiologyVacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS).
European journal of neurologyGenetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.
European journal of human genetics : EJHGA novel CD71 Centyrin:Gys1 siRNA conjugate reduces glycogen synthesis and glycogen levels in a mouse model of Pompe disease.
Molecular therapy : the journal of the American Society of Gene TherapyThe Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective.
Journal of clinical medicinePhenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.
JMIR research protocolsHematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience.
Bone marrow transplantationIntracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination.
HeliyonExploring the underlying mechanism by transcriptome sequencing in rats with high-voltage electrical burns and the role of iron metabolism.
Burns : journal of the International Society for Burn InjuriesPediatric Gaucher Disease Type 3 Presenting with Oculomotor Apraxia: A Case Report.
Children (Basel, Switzerland)Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review.
Seminars in musculoskeletal radiologyHow Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity.
Kidney & blood pressure researchDecoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.
Brain : a journal of neurologyLung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.
Children (Basel, Switzerland)Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.
European journal of neurologyDelayed diagnosis of mild mucopolysaccharidosis type IVA.
BMC medical genomicsPrenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.
CureusFailure of Autophagy in Pompe Disease.
BiomoleculesDiaphragm weakness in late-onset Pompe disease: A complex interplay between lower motor neuron and muscle fibre degeneration.
Journal of the neurological sciencesMorquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions.
International journal of molecular sciencesThe role of cardiac imaging in assessing the cardiac involvement of type 1 Gaucher disease: a case report with review of literature.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologyLong-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.
European journal of medical geneticsIntegrated Management of an Adult Patient with Mucopolysaccharidosis type IVA: A Case Report with a Six-Year Follow-up.
European journal of case reports in internal medicineCharacterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey.
JIMD reportsPathological mandibular fracture complicated by osteonecrosis in an adult patient with pycnodysostosis: clinical report and review of the literature.
European journal of medical geneticsMassive Splenomegaly with Pancytopenia in an Adult: Gaucher's Disease.
Cardiovascular & hematological disorders drug targetsThe clinical and genotypic-phenotypic findings of mucopolysaccharidosis VI patients: an Iraqi single-study descriptive study.
Annals of medicine and surgery (2012)Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
BiomoleculesBiofabrication of anin-vitrobone model for Gaucher disease.
BiofabricationFrom Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.
International journal of molecular sciencesDropped Head Syndrome Secondary to Danon Disease: A Case Report.
CureusGene therapy for glycogen storage diseases.
Journal of inherited metabolic diseaseDysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model.
CellsA novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.
Scientific reportsDistribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Current issues in molecular biologySuccessful combined umbilical cord blood and bone marrow transplantation from an HLA-matched sibling for MPS VI: a case report.
Therapeutic advances in rare diseaseGaucher: A Systematic Review on Oral and Radiological Aspects.
Medicina (Kaunas, Lithuania)Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.
European journal of medical geneticsGeneration and characterization of an immunodeficient mouse model of mucopolysaccharidosis type II.
Molecular genetics and metabolismQuality of Life with Late-Onset Pompe Disease: Qualitative Interviews and General Public Utility Estimation in the United Kingdom.
Journal of health economics and outcomes researchTreatment Dilemma in Children with Late-Onset Pompe Disease.
GenesTranscriptomic characterization of clinical skeletal muscle biopsy from late-onset Pompe patients.
Molecular genetics and metabolismA pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV).
Pediatric radiologySonographic evaluations of the skeletal muscles in patients with Pompe disease.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyWnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease.
Frontiers in endocrinologyClinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain.
JIMD reportsLysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
Journal of inherited metabolic diseaseAutophagy guided interventions to modify the cardiac phenotype of Danon disease.
Biochemical pharmacologyA novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequences.
Annals of human geneticsAggressive immunotherapy combined with bortezomib and rituximab for membranous nephropathy associated with enzyme replacement therapy in Pompe disease.
Pediatric nephrology (Berlin, Germany)Mucopolysaccharidosis: A broad review.
Indian journal of ophthalmologyBNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
The American journal of pathologyWhat's new and what's next for gene therapy in Pompe disease?
Expert opinion on biological therapyCase Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease).
Frontiers in neurologyHunter Syndrome: The Phenotype of a Rare Storage Disease.
CureusThe rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.
The Turkish journal of pediatricsOutcome of Later-Onset Pompe Disease Identified Through Newborn Screening.
The Journal of pediatricsMucopolysacharidosis Type I Presenting as Bipolar Affective Disorder: A Case Report.
Neurology IndiaClinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis.
Pediatric nephrology (Berlin, Germany)Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
The New England journal of medicineJaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease.
BMJ case reportsIn-depth phenotyping for clinical stratification of Gaucher disease.
Orphanet journal of rare diseasesFabry disease - current data and therapeutic approaches.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieEnzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
The Cochrane database of systematic reviewsClinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.
European journal of medical geneticsCell type-selective targeted delivery of a recombinant lysosomal enzyme for enzyme therapies.
Molecular therapy : the journal of the American Society of Gene TherapyDifferences in MPS I and MPS II Disease Manifestations.
International journal of molecular sciencesBone marrow burden score is not useful as a follow-up parameter in stable patients with type 1 Gaucher disease after 5 years of treatment.
Blood cells, molecules & diseasesTotal Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB.
Case reports in orthopedicsRapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1H NMR-Linked Metabolomics Strategy.
CellsRare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
International journal of molecular sciencesMuscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.
International journal of molecular sciencesEnzyme replacement combinational therapy: effective treatments for mucopolysaccharidoses.
Expert opinion on biological therapyThe Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns.
GenesCombined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
Journal of inherited metabolic diseaseOrofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.
Orphanet journal of rare diseasesSkeletal muscle magnetic resonance imaging in Pompe disease.
Muscle & nerveHip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives.
BoneMucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.
Molecular genetics and metabolism reports[Early diagnosis of Gaucher disease based on bone symptoms].
MedicinaImbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.
Disease models & mechanismsDilated cardiomyopathy in mucolipidosis type 2.
Journal of biological regulators and homeostatic agentsIdentification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.
Orphanet journal of rare diseasesSpectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study.
Orphanet journal of rare diseasesThe articular and the craniocervical abnormalities are of confusing age of onset in patients with Maroteaux-Lamy disease (MPS VI).
Minerva pediatricsA Cure for Sanfilippo Syndrome? A Summary of Current Therapeutic Approaches and their Promise.
Medical research archivesDistinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria.
Journal of the American Society of Nephrology : JASNA systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Journal of inherited metabolic diseaseRescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase.
Molecular therapy : the journal of the American Society of Gene TherapyMyopathies with finger flexor weakness: Not only inclusion-body myositis.
Muscle & nerveComprehensive cardiopulmonary assessment in α mannosidosis.
Pediatric pulmonologyCathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.
CellsHigh Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders.
Frontiers in endocrinologyBiochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Molecular genetics and metabolismCompound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families.
International journal of clinical and experimental pathologyGlycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.
Biochimica et biophysica acta. Molecular basis of diseaseWhite vitreous opacities in five patients with Gaucher disease type 3.
American journal of medical genetics. Part AAmbroxol improves skeletal and hematological manifestations on a child with Gaucher disease.
Journal of human geneticsLinks between autophagy and disorders of glycogen metabolism - Perspectives on pathogenesis and possible treatments.
Molecular genetics and metabolismWhole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.
Journal of inherited metabolic diseaseComprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family.
Molecular genetics and metabolism reportsThe skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.
BoneIdentification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.
Medical science monitor : international medical journal of experimental and clinical researchHuge Splenomegaly with Pancytopenia Due to Gaucher's Disease in a 22 Years Old Woman.
Mymensingh medical journal : MMJClinical myopathy in patients with nephropathic cystinosis.
Muscle & nerveBone mineral density is within normal range in most adult phenylketonuria patients.
Journal of inherited metabolic diseaseBeta Thalassemia Major with Gaucher's Disease: A Rare Entity.
CureusHeparan sulfate proteoglycans: The sweet side of development turns sour in mucopolysaccharidoses.
Biochimica et biophysica acta. Molecular basis of diseaseAn emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.
Annals of translational medicineVariable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.
Annals of translational medicineAberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease.
Molecular genetics and metabolismIdentification of serum microRNAs as potential biomarkers in Pompe disease.
Annals of clinical and translational neurologyThe nature of respiratory muscle weakness in patients with late-onset Pompe disease.
Neuromuscular disorders : NMDHearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
American journal of medical genetics. Part AGaucher Disease in Bone: From Pathophysiology to Practice.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchPrevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation.
Molecular genetics & genomic medicineA Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina.
Calcified tissue internationalOral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
American journal of medical genetics. Part ADefects in sarcolemma repair and skeletal muscle function after injury in a mouse model of Niemann-Pick type A/B disease.
Skeletal muscleSkeletal alterations, developmental delay and new mutations in juvenile-onset Pompe disease.
Neuromuscular disorders : NMDDoes the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Clinical dysmorphologyCardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review.
Journal of the American College of CardiologyClinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses.
Italian journal of pediatricsMucopolysaccharidoses: early diagnostic signs in infants and children.
Italian journal of pediatricsThe role of imaging in the skeletal involvement of mucopolysaccharidoses.
Italian journal of pediatricsMultisuture Craniosynostosis and Papilledema in Pycnodysostosis: A Paradox?
The Journal of craniofacial surgeryCentral nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis.
European journal of neurologyThe clinical spectrum of CASQ1-related myopathy.
NeurologySpine challenges in mucopolysaccharidosis.
International orthopaedicsBone health in patients with inborn errors of metabolism.
Reviews in endocrine & metabolic disordersExploring genetic modifiers of Gaucher disease: The next horizon.
Human mutationCraniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Journal of inherited metabolic diseaseJoint manifestations can provide diagnostic clues in Morquio syndrome. Comment on: "Mucopolysaccharidoses seen in adults in rheumatology" by Mitrovic et al., Joint Bone Spine 2017;84:663-70.
Joint bone spineDental Management of a Young Child Affected by Galactosialidosis and a Gigantic Abdominal Growth.
Case reports in dentistryTherapeutic Benefit of Autophagy Modulation in Pompe Disease.
Molecular therapy : the journal of the American Society of Gene TherapyMucolipidosis type III, a series of adult patients.
Journal of inherited metabolic diseaseHuman Genetics of Sclerosing Bone Disorders.
Current osteoporosis reportsFGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).
Human molecular geneticsTurning the backbone into an ankylosed concrete-like structure: Case report.
MedicineGrowth impairment in mucopolysaccharidoses.
Molecular genetics and metabolism2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease.
Human genomicsCorrelating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.
Molecular genetics and metabolismNeural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.
Journal of inherited metabolic diseaseRole of lysosomal channel protein TPC2 in osteoclast differentiation and bone remodeling under normal and low-magnesium conditions.
The Journal of biological chemistryMucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia.
BMJ case reportsHematopoietic stem cell transplantation for Gaucher disease.
The Cochrane database of systematic reviewsInsight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
Molecular genetics and metabolismLate-onset Pompe disease in a 54 year-old sportsman with an episode of syncope: a case report.
European review for medical and pharmacological sciencesChronic pain in Gaucher disease: skeletal or neuropathic origin?
Orphanet journal of rare diseasesSkeletal involvement in type 1 Gaucher disease: Not just bone mineral density.
Blood cells, molecules & diseasesCystinosis distal myopathy, novel clinical, pathological and genetic features.
Neuromuscular disorders : NMDLong-term response in biochemical markers of bone turnover during enzyme replacement therapy in a case-series of patients with Gaucher disease type I from Northern Greece.
HippokratiaClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.
Frontiers in pharmacologyIdentification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.
PloS oneThe emerging phenotype of late-onset Pompe disease: A systematic literature review.
Molecular genetics and metabolismFasciculations in Late-Onset Pompe Disease: A Sign of Motor Neuron Involvement?
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesOsteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease.
International journal of molecular sciencesMutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Human molecular geneticsNorrbottnian clinical variant of Gaucher disease in Southern Italy.
Journal of human geneticsAnaesthetic implications of the changing management of patients with mucopolysaccharidosis.
Anaesthesia and intensive careGaucher disease epidemiology and natural history: a comprehensive review of the literature.
Hematology (Amsterdam, Netherlands)Glucosylsphingosine is a key biomarker of Gaucher disease.
American journal of hematologyMuscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.
Muscle & nerveOcular and electrophysiological findings in a patient with Sly syndrome.
Ophthalmic geneticsHeart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome).
PloS oneCutaneous Manifestations of Mucopolysaccharidoses.
Pediatric dermatologyThe constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.
MedicineSkeletal involvement in Gaucher disease: An observational multicenter study of prognostic factors in the Argentine Gaucher disease patients.
American journal of hematologySlow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.
Orphanet journal of rare diseasesDanon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy.
Journal of cell scienceSevere Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
JIMD reportsVaried autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells.
Molecular genetics and metabolismEnzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients.
Molecular genetics and metabolism reportsClinical course of sly syndrome (mucopolysaccharidosis type VII).
Journal of medical geneticsThe infantile-onset form of Pompe disease: an autopsy diagnosis.
Autopsy & case reportsEnzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
The Cochrane database of systematic reviewsAssociações
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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.
- Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.
- Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database.
- Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.
- Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.
- Recent advances in mucopolysaccharidosis IVA treatment.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:93448(Orphanet)
- MONDO:0800088(MONDO)
- GARD:19203(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q55788818(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
