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
New mutation (S298P) in a patient with glycogen storage disease type IA
β Scribed by Marina Stroppiano; Raffaella Mazzotti; Stefano Regis; Rosanna Gatti
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 115 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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## Abstract Glycogen storage disease type Ia (GSDIa) is a severe autosomal recessive disorder caused by deficiency of the enzyme Dβglucoseβ6βphosphatase (G6Pase). While numerous mutations have been found in cosmopolitan European populations, Ashkenazi Jewish (AJ) patients appear to primarily carry