Intermittent and recurrent hepatomegaly due to glycogen storage in a patient with type 1 diabetes: Genetic analysis of the liver glycogen phosphorylase gene (PYGL)

A nonsense mutation due to a single base

A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa

✍ Jianjun Shen; Yong Bao; Yuan-Tsong Chen 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 2 views

Glycogen storage disease type III (GSD-III) is an autosomal recessive disease resulting from deficient glycogen debranching enzyme (ODE) activity. A child with GDE deficient in both liver and muscle (GSD-IIIa) had recurrent hypoglycemia, seizures, severe cardiomegaly, and hepatomegaly and died at 4