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Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.

Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency

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Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Woo, Hye In Park, Hyung-Doo Lee, Yong-Wha Lee, Dong Hwan Ki, Chang-Seok Lee, Soo-Youn Kim, Jong-Won
Spatial Coverage	Republic of Korea
Description	Author Affiliation: Woo HI ( Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.)
Abstract	Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid ß-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness. The most frequently isolated mutation in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene of Caucasian patients with MCADD is c.985A>G, but ethnic variations exist in the frequency of this mutation. Here, we describe 2 Korean pediatric cases of MCADD, which was detected during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The levels of medium-chain acylcarnitines, including octanoylcarnitine (C8), hexanoylcarnitine (C6), and decanoylcarnitine (C10), were typically elevated. Molecular studies revealed that Patient 1 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.461T>G (p.L154W) mutations, and Patient 2 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.1189T>A (p.Y397N) mutations. We detected asymptomatic patients with MCADD by using a newborn screening test and confirmed it by ACADM mutation analysis. This report presents evidence of the biochemical and molecular features of MCADD in Korean patients and, to the best of our knowledge, this is the first report of the c.461T>G mutation in the ACADM gene.
File Format	HTM / HTML
ISSN	22343806
e-ISSN	22343814
DOI	10.3343/kjlm.2011.31.1.54
Journal	The Korean Journal of Laboratory Medicine
Issue Number	1
Volume Number	31
Language	English
Publisher	Korean Society for Laboratory Medicine
Publisher Date	2011-01-01
Publisher Place	Korea (South)
Access Restriction	Open
Subject Keyword	Discipline Medical Laboratory Technology Asian Continental Ancestry Group Genetics Acyl-coa Dehydrogenase Chemistry Deficiency Biological Markers Blood Carnitine Analogs & Derivatives Dna Mutational Analysis Exons Gene Deletion Heterozygote Infant, Newborn Lipid Metabolism, Inborn Errors Diagnosis Mutation Neonatal Screening Tandem Mass Spectrometry
Content Type	Text
Resource Type	Case study Article
Subject	Biochemistry (medical) Clinical Biochemistry

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Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.