amylopectinosis

glycogen storage disease, type IV.

amylopectinosis (Wikipedia)
Glycogen storage disease type IV
Glycogen.png
Glycogen
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 form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the 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.