Glycogen storage disease type IV

Glycogen storage disease type IV

Classification and external resources
Specialty endocrinology
ICD-10 E74.0
ICD-9-CM 271.0
OMIM 232500 263570 607839
DiseasesDB 5303
eMedicine med/910 ped/97
MeSH D006011
GeneReviews

Glycogen storage disease type IV is a rare hereditary metabolic disorder. It is the result of a mutation in GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. Glycogen Storage Disease Type IV is autosomal recessive, which means each parent has a mutant copy of the gene but show no symptoms of the disease. It affects 1 in 800,000 individuals worldwide, with 3% of all Glycogen Storage Diseases being type IV.[1]

Synonyms

It is also known as:

Eponym

The eponym "Andersen's disease" is sometimes used, for Dorothy Hansine Andersen.[2][3]

Human pathology

It is a result of the absence of the glycogen branching enzyme amylo-1,4-1,6 transglucosidase, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The inability to breakdown glycogen in muscle cells causes muscle weakness. The probable end result is cirrhosis and death within 5 years. In adults, the activity of the enzyme is higher and symptoms do not appear until later in life.

Variant types

Fatal perinatal neuromuscular type

Congenital muscular type

Progressive hepatic type

Non-progressive hepatic type

Childhood neuromuscular type

In animals

In horses: it has been reported in American Quarter Horses and related breeds.

In cats: the disease has been reported in the Norwegian Forest Cat, where it causes skeletal muscle, heart, and CNS degeneration in animals greater than 5 months old. It has not been associated with cirrhosis or liver failure.[4]

References

  1. "Glycogen Storage Disease Type IV." Genetics Home Reference. U.S. National Library of Medicine, 10 Sept. 2015. Web. 27 Sept. 2015.
  2. Andersen's disease (Dorothy Hansine Andersen) at Who Named It?
  3. Andersen DH (1956). "Familial cirrhosis of the liver with storage of abnormal glycogen". Lab. Invest. 5 (1): 11–20. PMID 13279125.
  4. Fyfe, JC, Giger, U, VanWinkle, TJ, Haskins, ME, Steinberg, SA, et al. 1992Glycogen storage disease type IV: Inherited deficiency of branching enzyme activity in catsPediatr Res32719725

External links


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