1176C Polymorphism in Japanese patients with glycogen storage disease type 1a
โ Scribed by M. Okubo; Asako Horinishi; Toshio Murase; Keisuke Hamada
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 13 KB
- Volume
- 104
- Category
- Article
- ISSN
- 0340-6717
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Glycogen storage disease type l a (GSD la), a severe metabolic disorder, is caused by the absence of glucose-6-phosphatase (G6Pase) activity. Diagnosis is currently established by demonstrating the lack of G6Pase activity in the patient's liver specimen. Enzymatic diagnosis cannot be performed in ch
The case of a boy affected by type III glycogen storage disease and total GH deficiency is reported. Substitutive treatment with hGH caused an extreme elevation of blood lipids. His lipid profile returned near to basal values 1 month after treatment was discontinued. The association of growth hormon