title: A case of glycogen storage disease type III (glycogen debranching enzyme deficiency) with liver cirrhosis and hypertrophic cardiomyopathy.
abstract: We present a 26-year-old woman with glycogen storage disease type III (debranching enzyme deficiency) complicated with liver cirrhosis and hypertrophic cardiomyopathy. Glycogen debranching enzyme has two catalytic sites, oligo-1,4,-1,4- glucantransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33). Variability in the clinical phenotype could be a function of the involvement of one or other catalytic site, or differences in tissue expression of the defective enzyme, or both. We hypothesize that some subtypes of glycogen storage disease (GSD) type III may cause liver cirrhosis as seen in GSD type IV due to the accumulation of glycogen of abnormal structure.
authors.affiliation: Shounai Amarume Hospital, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kobayashi
authors.forename: F
authors.initials: F
authors.lastname: Nishinomiya
authors.forename: Y
authors.initials: Y
authors.lastname: Fukamachi
authors.forename: M
authors.initials: M
authors.lastname: Ohtaka
authors.forename: J
authors.initials: J
authors.lastname: Yamamoto
authors.forename: K
authors.initials: K
authors.lastname: Takagi
authors.forename: S
authors.initials: S
authors.lastname: Tanaka
authors.forename: S
authors.initials: S
authors.lastname: Takizawa
authors.forename: H
authors.initials: H
authors.lastname: Imadachi
authors.forename: M
authors.initials: M
authors.lastname: Fukase
mesh_terms: D000328:Adult; D006332:Cardiomegaly / Q000150:complications*; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000150:complications*; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications*; D011379:Prognosis