Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease
✍ Scribed by Janice Y. Chou; Brian C. Mansfield
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 245 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Communicated by William S
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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
We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog