- Case Report
- Isovaleric Acidemia in Siblings Diagnosed by Organic Acid Analysis
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Kyung Soo Cheon, Dong Hwan Lee
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Clin Exp Pediatr. 2000;43(6):828-831. Published online June 15, 2000
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Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are... |
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