[HTML][HTML] Glycogen storage disease type III diagnosis and management guidelines

PS Kishnani, SL Austin, P Arn, DS Bali, A Boney… - Genetics in …, 2010 - Elsevier
Purpose Glycogen storage disease type III is a rare disease of variable clinical severity
affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of
glycogen debranching enzyme, which is a key enzyme in glycogen degradation. Glycogen
storage disease type III manifests a wide clinical spectrum. Individuals with glycogen storage
disease type III present with hepatomegaly, hypoglycemia, hyperlipidemia, and growth
retardation. Those with type IIIa have symptoms related to liver disease and progressive …