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glycogen storage disease II

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.

Synonyms

  • Aglucosidase alfa
  • Alpha-1,4-glucosidase acid deficiency
  • Alpha-1,4-glucosidase deficiency
  • Cardiomegalia Glycogenica diffusa
  • GAA deficiency
  • GAA glycogen storage disease
  • GSD 2
  • GSD II
  • GSD due to acid maltase deficiency
  • GSD type 2
  • GSD type II
  • GSD2
  • Pompe Disease
  • Pompe disease
  • Pompe's disease
  • acid maltase deficiency
  • acid maltase deficiency disease
  • deficiency of alpha-glucosidase
  • deficiency of glucoamylase
  • deficiency of lysosomal alpha-glucosidase
  • deficiency of maltase
  • generalised glycogenosis
  • generalized glycogenosis
  • glucosidase acid-1,4-alpha deficiency
  • glycogen storage disease 2
  • glycogen storage disease II
  • glycogen storage disease caused by mutation in GAA
  • glycogen storage disease due to acid maltase deficiency
  • glycogen storage disease type 2
  • glycogen storage disease type II
  • glycogen storage disease, type II
  • glycogenosis due to acid maltase deficiency
  • glycogenosis type 2
  • glycogenosis type II
  • glycogenosis, generalized, Cardiac form
  • glycogenosis, type 2
  • lysosomal alpha-1,4-glucosidase deficiency
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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