title: Liver cirrhosis treated by living donor liver transplantation in a patient with AGL mutation c.2607-2610delATTC and c.1672dupA.
abstract: Glycogen storage disease type III (GSD III) is an inherited disorder characterized by the accumulation of abnormal glycogen in the liver. Hepatic manifestations were considered as improving with age; however, patients live longer and liver cirrhosis is being recognized. We report a patient of GSD IIIa with liver cirrhosis, which was treated successfully by living donor liver transplantation. The patient proved to be a compound heterozygote for a novel small deletion c.2607-2610delATTC and a known duplication c.1672dupA in AGL, a gene coding glycogen debranching enzyme responsible for GSD III. Molecular diagnosis helped clinical decision-making.
authors.affiliation: Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Kondo
authors.forename: Hiromi
authors.initials: H
authors.lastname: Usui
authors.forename: Mika
authors.initials: M
authors.lastname: Ishige-Wada
authors.forename: Toshio
authors.initials: T
authors.lastname: Murase
authors.forename: Misao
authors.initials: M
authors.lastname: Owada
authors.forename: Minoru
authors.initials: M
authors.lastname: Okubo
mesh_terms: D006010:Glycogen Storage Disease Type III / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D006579:Heterozygote; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D016031:Liver Transplantation; D019520:Living Donors; D008297:Male; D009154:Mutation; D016896:Treatment Outcome; D055815:Young Adult; D000520:alpha-Glucosidases / Q000172:deficiency / Q000235:genetics*
chemical_list: D000520:alpha-Glucosidases
keywords: AGL; Glycogen storage disease type III; Liver cirrhosis; Living donor liver transplantation; Mutation