Isovaleric Acidemia 3례

3 Case of Isovaleric Acidemia

저자들은 잘 교정되지 않는 대사성 산혈증을 주소로 내원한 3세된 남아와 원인 모르는 기면과 구토로 5차례 입원했던 과거력을 가진 8세된 남아 형제가 유기산 분석에서 isovalerylglycine의 현저한 증가를 보여 만성 간헐형의 isovaleric acidemia로 진단된 예와 탄뎀질량분석검사에서 isovaleric acidemia로 진단되어 조기치료하고 있는 예를 경험하였기에 보고하는 바이다.

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 in 3 cases isovaleric acidemia.