Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands
✍ Scribed by Santer, René; Kinner, Martina; Steuerwald, Ulrike; Kjærgaard, Susanne; Skovby, Flemming; Simonsen, Henrik; Shaiu, Wen-Ling; Chen, Yuan-Tsong; Schneppenheim, Reinhard; Schaub, Jürgen
- Book ID
- 110025121
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 102 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1018-4813
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Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions. Here we describe a novel G1
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