" /> Pompe disease, infantile-onset - CISMeF





Preferred Label : Pompe disease, infantile-onset;

Symbol : IOPD;

CISMeF acronym : AMD; GSD II; GSD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomegalia glycogenica diffusa; Pompe disease; GSD2I; GSD2; Amd, infantile-onset; Gsd II; Glycogenosis, generalized, cardiac form; Acid alpha-glucosidase deficiency, infantile-onset; Glycogen storage disease II, infantile-onset; Glycogen storage disease II; Gaa deficiency, infantile-onset; Acid maltase deficiency, infantile-onset;

Description : Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-1,4-glucosidase gene (GAA, 606800.0002);

Laboratory abnormalities : Elevated serum creatine kinase; Elevated AST and LDH, especially infantile-onset; Presence of vacuoles on muscle biopsy; Deficiency of alpha-1,4-glucosidase (acid maltase);

Prefixed ID : #232300;

Details


You can consult :


Nous contacter.
03/10/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.