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A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia

✍ Scribed by Jie Zhu; Yan Xing; Xuenong Xing; An Ren; Shandong Ye; Guoping He


Book ID
119241393
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
479 KB
Volume
511
Category
Article
ISSN
0378-1119

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Heterogeneous mutations in the glucose-6
✍ Takahashi, Kazutoshi; Akanuma, Jun; Matsubara, Yoichi; Fujii, Kunihiro; Kure, Sh πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 35 KB πŸ‘ 2 views

Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive disorder of glycogen metabolism caused by glucose-6-phosphatase (G6Pase) deficiency. It is characterized by short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. Various mutations have been reported in the G