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
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan
โ Scribed by M. Okubo; A. Horinishi; M. Takeuchi; Y. Suzuki; N. Sakura; Y. Hasegawa; T. Igarashi; K. Goto; H. Tahara; S. Uchimoto; K. Omichi; H. Kanno; K. Hayasaka; T. Murase
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 295 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0340-6717
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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
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