title: A man with type III glycogenosis associated with cirrhosis and portal hypertension.
abstract: Type III glycogenosis, an inherited disorder of glycogen metabolism that results from reduced or absent activity of the enzyme amylo-1,6-glycosidase (debranching enzyme), has not been frequently associated with cirrhosis and portal hypertension in adults. An adult Caucasian man with well-document type IIIa glycogenosis, who presented with a variceal hemorrhage secondary to hepatic cirrhosis, is described here. No other cause of cirrhosis was found.
authors.affiliation: Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor.
authors.forename: A J
authors.initials: AJ
authors.lastname: Markowitz
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
authors.forename: J
authors.initials: J
authors.lastname: Muenzer
authors.forename: E A
authors.initials: EA
authors.lastname: Delbuono
authors.forename: M R
authors.initials: MR
authors.lastname: Lucey
mesh_terms: D000328:Adult; D006010:Glycogen Storage Disease Type III / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology*; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008103:Liver Cirrhosis / Q000209:etiology*; D008297:Male; D009132:Muscles / Q000378:metabolism