Diagnosis of a novel glycogen storage disease: Type 1aSP
โ Scribed by A. Burchell; I. D. Waddell
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 266 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0141-8955
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๐ SIMILAR VOLUMES
Glycogen storage disease type Ia (GSD la, von Gierke disease) is an autosomal recessive inborn error of metabolism caused by the deficiency of ~-glucose-6-phosphatase (G6Pase). Since this enzyme is expressed primarily in hepatocytes, couples at risk for GSD type Ia relied on fetal liver biopsy for p
Current laboratory diagnosis for glycogen storage disease type la (GSD la) is established by functional enzyme assay to demonstrate the deficiency of glucosed-phosphate phosphatase (G6Pase). This procedure requires liver biopsy and is impractical for routine prenatal diagnosis owing to the high morb