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KMID : 0918520160160010042
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Journal of the Korean Society of Inherited Metabolic Disease
2016 Volume.16 No. 1 p.42 ~ p.46
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Neonatal Onset Isovaleric Acidemia with Novel Mutation
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Kim Young-Han
Bae Eun-Joo
Park Hyung-Doo
Lee Hong-Jin
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Abstract
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Isovaleric acidemia is autosomal-recessively inherited and an inborn error of metabolism caused by abnormal leucine metabolism due to the genetic defect of IVD (Isovaleryl-CoA dehydrogenase). IVD corresponds to mitochondrial matrix enzyme that acts on converting isovaleryl-CoA into 3-methylcrotonyl-CoA in the leucine catabolism. The IVD gene is located at Chromosome 15q14-q15, particularly between base pair 40,405,485 and base pair 40,435,948. It consists of 12 exons and has been reported to cause over 50 diseases so far. We conducted IVD gene test on the patient with acute isovaleric acidemia and confirmed a new type of mutation for the first time. As a result of analyzing the IVD gene
sequence, we found out that c.129T>G(p.Asn43Lys) and c.1033A>G(p.Asn345Asp) mutations exist as heterozygosity at Exon 1 and Exon 10 respectively, novel mutation.
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KEYWORD
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Isovaleric acidemia, Isovaleryl-CoA dehydrogenase, Organic acid analysis
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