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A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.

Molecular genetics and metabolism - 1 Jun 2003

Tang Nelson L S, Hui Joannie, Young Elisabeth, Worthington Viki, To Ka-Fai, Cheung Kam-Lau, Li Chi-Kong, Fok Tai-Fai

Abstract excerpt

We identified a novel mutation in the glycogen phosphorylase gene (PGYL) in a Chinese patient with glycogen storage disease (GSD) type VI. The patient presented with gross hepatomegaly since the age of two without history of any hypoglycemic attack. Otherwise, he was largely asymptomatic. Liver tissue enzyme assays revealed a mild deficiency of total glycogen phosphorylase. Both PGYL and PHKA2 genes were...

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PMID: 12809646
DOI: 10.1016/s1096-7192(03)00068-4

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