| umls-concept:C0017923 | skos:definition | MSH: An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (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.,CSP: 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.,NCI: A rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6 transglucosidase. | lld:umls |
