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MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia

✍ Scribed by YONG QU; JOSE E. ABDENUR; CHRISTINE M. ENG; ROBERT J. DESNICK

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
469 KB
Volume
16
Category
Article
ISSN
0197-3851

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✦ Synopsis

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 prenatal diagnosis. The recent isolation of the G6Pase gene and identification of several disease-causing mutations have permitted molecular prenatal diagnosis using amniocytes or chorionic villi. Chorionic villus sampling (CVS) was performed in an Ashkenazi Jewish family in whom a previous child was homoallelic and both parents were heterozygous for the R83C mutation. Molecular analysis revealed that the fetus was not affected. The prenatal diagnosis was confirmed postnatally by biochemical and molecular studies. Thus, the molecular prenatal diagnosis of GSD type Ia can be safely and accurately made in the first trimester.

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