All issues > Volume 43(6); 2000

Case Report

J Korean Pediatr Soc. 2000;43(6):828-831. Published online June 15, 2000.

Isovaleric Acidemia in Siblings Diagnosed by Organic Acid Analysis

Kyung Soo KS Cheon¹, Dong Hwan DH Lee¹

¹Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea

Abstract

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 two clinically different presentations of isovaleric acidemia, with about half the patients presenting with an acute severe neonatal form and about half with a chronic intermittent form. The difference in clinical presentation may not be a consequence of differing severities of the causative mutation, but a result of the timing of application of catabolic stress or the ability to form isovalerylglycine. We described here clinical and organic acid analytical findings of brothers with chronic intermittent form of isovaleric acidemia.

Keywords :Isovaleric acidemia, Organic acid analysis