Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency.
10.3343/kjlm.2011.31.1.54
- Author:
Hye In WOO
1
;
Hyung Doo PARK
;
Yong Wha LEE
;
Dong Hwan LEE
;
Chang Seok KI
;
Soo Youn LEE
;
Jong Won KIM
Author Information
1. Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD);
ACADM;
Novel mutation
- MeSH:
Acyl-CoA Dehydrogenase/chemistry/deficiency/genetics;
Asian Continental Ancestry Group/*genetics;
Base Sequence;
Biological Markers/blood;
Carnitine/analogs & derivatives/blood;
DNA Mutational Analysis;
Exons;
Female;
Gene Deletion;
Heterozygote;
Humans;
Infant, Newborn;
Lipid Metabolism, Inborn Errors/diagnosis/genetics;
Male;
Mutation;
Neonatal Screening;
Republic of Korea;
Tandem Mass Spectrometry
- From:The Korean Journal of Laboratory Medicine
2011;31(1):54-60
- CountryRepublic of Korea
- Language:English
-
Abstract:
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-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.
