Prenatal detection of methylmalonic acidemia
β Scribed by Grant Morrow III; Richard H. Schwarz; James A. Hallock; Lewis A. Barness
- Book ID
- 118536064
- Publisher
- Elsevier Science
- Year
- 1970
- Tongue
- English
- Weight
- 312 KB
- Volume
- 77
- Category
- Article
- ISSN
- 1097-6833
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π SIMILAR VOLUMES
Methylmalonic acidemia is an inborn error of metabolism leading to protein intolerance. This autosomal recessive trait [8] is caused by decreased activity of methylmalonyl-CoA mutase or its coenzyme adenosylcobalamin, a vitamin B~2 metabolite. Seven mutations of this enzyme or its coenzyme have been
A sensitive and reliable method for trace analysis of methylmalonic acid in amniotic fluid and urine is described using deuterated methyhnalonic acid as the internal standard and capillary gas chromatography/mass fragmentography. The application of the method for the prenatal diagnosis of methylmalo