Amylopectinoses

《英文msh詞典》Amylopectinoses
[入口詞] Amylopectinoses
[主題詞] Glycogen Storage Disease Type IV
[英文釋義] An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase),resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2.