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New mutation (S298P) in a patient with glycogen storage disease type IA

✍ 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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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

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## Abstract Glycogen storage disease type Ia (GSDIa) is a severe autosomal recessive disorder caused by deficiency of the enzyme D‐glucose‐6‐phosphatase (G6Pase). While numerous mutations have been found in cosmopolitan European populations, Ashkenazi Jewish (AJ) patients appear to primarily carry