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G6PC mutations in two patients with glycogen storage disease type Ia in Thailand

✍ Scribed by Mahattana Kamolsilp; Minoru Okubo


Book ID
114816276
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
74 KB
Volume
99
Category
Article
ISSN
0803-5253

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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