Not to be confused with Danon disease (GSD-IIb), which has similar symptoms but a different gene.
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Muscle biopsy showing large vacuoles in a case of Pompe disease (HE stain, frozen section)
Pronunciation
Pompe /ˈpɒmpə/
Specialty
Endocrinology
Glycogen storage disease type II, also called Pompe disease, formerly known as GSD-IIa and LGMD2V. It is an autosomal recessive metabolic disorder[1] which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. GSD-II and Danon disease are the only glycogen storage diseases with a defect in lysosomal metabolism, and Pompe disease was the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe.
The inability to breakdown glycogen within the lysosomes of cells leads to progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and the nervous system.
^Pompe disease at NLM Genetics Home Reference
and 25 Related for: Glycogen storage disease type II information
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Mucolipidoses; Mucolipidosis IV is a gangliosidosis Also, glycogenstoragediseasetypeII (Pompe disease) is a defect in lysosomal metabolism as well, although...
and Wilson's disease. Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency and glycogenstoragediseasetypeII. In transthyretin-related...
(ERT) orphan drug for treatment of Pompe disease (GlycogenstoragediseasetypeII), a rare lysosomal storage disorder (LSD). Chemically, the drug is an...
Danon disease (or glycogenstoragediseaseType IIb) is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogenstorage disorder associated...
replacement therapy medication used for the treatment of glycogenstoragediseasetypeII (Pompe disease). The most common side effects include headache, fatigue...
characterized the condition now known as GlycogenstoragediseasetypeII. It is sometimes referred to as Pompe disease. He studied medicine at the University...
comorbidity of late-onset Pompe disease (GlycogenstoragediseasetypeII). As both hyper- and hypothyroidism disrupts muscle glycogen metabolism, it is important...
highly branched glycogen molecule. Mutations in this gene are associated with glycogenstoragediseasetype IV (also known as Andersen's disease) in newborns...
Walter Pompe (1703–1777), Flemish master-sculptor GlycogenstoragediseasetypeII, or Pompe disease All pages with titles beginning with Pompe All pages...
replacement therapy in patients with all subtypes of glycogenstoragediseasetypeII (Pompe's disease).” Subsequent research at Genzyme on NZ-1001 along...
enzymes involved in breaking down complex carbohydrates such as starch and glycogen into their monomers. They catalyze the cleavage of individual glucosyl...
myelopathy (DM) and Pompe disease (also known as glycogenstoragediseasetypeII, GSD II), which is a progressive disorder of glycogen metabolism. The breed...
mutations related to glycogen metabolism. GSD typeII (Pompe disease) GSD type V (McArdle disease) GSD type VII (Tarui disease) GSD type XI (Lactate dehydrogenase...
Wechsler, Stephanie Burns; Weinstein, David A. (July 2010). "GlycogenStorageDiseaseType III diagnosis and management guidelines". Genetics in Medicine...
congenital metabolic diseases, with prominent examples of each class. Disorders of carbohydrate metabolism glycogenstoragedisease G6PD deficiency Disorders...
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