title: A case of glycogen storage disease type Ia with multiple hepatic adenomas and G727T mutation in the glucose-6-phosphatase gene, and a comparison with other mutations previously reported.
abstract: We report a case of 23-yr-old man with glycogen storage disease (GSD) type Ia complicated by multiple hepatic adenomas. Analysis of the G-6-Pase gene using peripheral blood sample showed this patient to be homozygous for a G-to-T transversion at nucleotide 727 in exon 5. This mutation is prevalent among Japanese patients, suggesting that specific genotypes may correlate with different clinical courses or outcomes.
authors.affiliation: 2nd Department of Internal Medicine, Shinshu University, School of Medicine, Matsumoto, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Karasawa
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Nakano
authors.forename: Y
authors.initials: Y
authors.lastname: Aoki
authors.forename: S
authors.initials: S
authors.lastname: Kawa
authors.forename: K
authors.initials: K
authors.lastname: Kiyosawa
authors.forename: H
authors.initials: H
authors.lastname: Seki
authors.forename: S
authors.initials: S
authors.lastname: Kawasaki
authors.forename: K
authors.initials: K
authors.lastname: Furihata
authors.forename: N
authors.initials: N
authors.lastname: Itoh
mesh_terms: D000236:Adenoma / Q000097:blood / Q000150:complications*; D000328:Adult; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000097:blood / Q000150:complications* / Q000235:genetics; D006801:Humans; D008055:Lipids / Q000097:blood; D008113:Liver Neoplasms / Q000097:blood / Q000150:complications*; D008297:Male; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000097:blood / Q000150:complications*
chemical_list: D008055:Lipids; D005952:Glucose-6-Phosphatase