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.
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.
Karasawa
Y
Y
2nd Department of Internal Medicine, Shinshu University, School of Medicine, Matsumoto, Japan.
Kobayashi
M
M
Nakano
Y
Y
Aoki
Y
Y
Kawa
S
S
Kiyosawa
K
K
Seki
H
H
Kawasaki
S
S
Furihata
K
K
Itoh
N
N
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*
D008055:Lipids; D005952:Glucose-6-Phosphatase