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
Diagnosis of glycogen storage disease
β Scribed by Y. S. Shin
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 979 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0141-8955
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Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive condition, caused by a deficiency of hepatic glucose-6-phosphatase (G6Pase) activity. In a consanguineous family originating from northern Africa whose first daughter was affected with GSD Ia, we were able to identify the disease-ca
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
Deficiency of glycogen branching enzyme activity causes glycogen storage disease type IV (GSD-IV). Clinically, GSD-IV has variable clinical presentations ranging from a fatal neonatal neuromuscular disease, to a progressive liver cirrhosis form, and to a milder liver disease without progression. Cur
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