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

Authors
KARASAWA Y KOBAYASHI M NAKANO Y AOKI Y KAWA S KIYOSAWA K SEKI H KAWASAKI S FURIHATA K ITOH N
Citation
Y. Karasawa et al., 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, The American journal of gastroenterology, 93(9), 1998, pp. 1550-1553
Citations number
19
Categorie Soggetti
Gastroenterology & Hepatology
Journal title
The American journal of gastroenterology → ACNP
ISSN journal
00029270
Volume
93
Issue
9
Year of publication
1998
Pages
1550 - 1553
Database
ISI
SICI code
0002-9270(1998)93:9<1550:ACOGTI>2.0.ZU;2-J
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 homo zygous for a G-to-T transversion at nucleotide 727 in exon 5. This mut ation is prevalent among Japanese patients, suggesting that specific g enotypes may correlate with different clinical courses or outcomes. (A m J Gastroenterol 1998;93:1550-1553, (C) 1998 by Am. Coll. of Gastroen terology).