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GTR Home > Conditions/Phenotypes > Glycogen storage disease, type II

Glycogen storage disease, type II

Synonyms
ACID ALPHA-GLUCOSIDASE DEFICIENCY; Acid maltase deficiency disease; Aglucosidase alfa; Alpha-1,4-glucosidase deficiency; Cardiomegalia glycogenica diffusa; Deficiency of alpha-glucosidase; Deficiency of lysosomal alpha-glucosidase; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; Glucosidase acid-1,4-alpha deficiency; Glycogen Storage Disease Type II (Pompe Disease); Glycogen storage disease type 2; POMPE DISEASE
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Pompe Disease
Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression. Infantile-onset Pompe disease (IOPD; individuals with onset before age 12 months with cardiomyopathy) may be apparent in utero but more typically onset is at the median age of four months with hypotonia, generalized muscle weakness, feeding difficulties, failure to thrive, respiratory distress, and hypertrophic cardiomyopathy. Without treatment by enzyme replacement therapy (ERT), IOPD commonly results in death by age two years from progressive left ventricular outflow obstruction and respiratory insufficiency. Late-onset Pompe disease (LOPD; including: (a) individuals with onset before age 12 months without cardiomyopathy; and (b) all individuals with onset after age 12 months) is characterized by proximal muscle weakness and respiratory insufficiency; clinically significant cardiac involvement is uncommon.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Nancy Leslie
Laurie Bailey
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Available tests

180 tests are in the database for this condition.

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Clinical tests (180 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LYAG, GAA
    Summary: alpha glucosidase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics ACT SHEET, Newborn Screening ACT Sheet- Pompe Disease (Glycogen Storage Disease type II), 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Pompe disease: acid alpha-glucosidase deficiency, 2022

Molecular resources

Consumer resources

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