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Ann Clin Lab Sci. 2016 Winter;46(1):97-101.

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.

Author information

1
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea jmko@snu.ac.kr.
2
Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
3
Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
4
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
5
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.

Abstract

Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD; OMIM#201475) is a rare metabolic disorder of mitochondrial fatty acid oxidation. VLCADD includes three clinical forms that are grouped based on disease severity. Here, we present two unrelated patients suspected of having VLCADD based on a newborn screening test. One patient was diagnosed in the neonatal period and, to date, has not shown any symptoms or signs associated with VLCADD; in contrast, diagnosis was delayed in the other patient after events of hypoketotic hypoglycemia and steatohepatitis. Repeated biochemical analyses and a liver biopsy implied VLCADD, and direct sequencing analysis led to the discovery of three novel mutations, including an identical missense variant (p.Ser207Pro) on ACADVL. Our patients were the first cases of the milder form of VLCADD, and the identical mutation detected might represent a founder mutation in the Korean population and be associated with the milder phenotype of VLCADD.

KEYWORDS:

ACADVL; Fatty acid oxidation; Hypoglycemia; Riboflavin; Very-long-chain acyl-CoA dehydrogenase

PMID:
26927351
[Indexed for MEDLINE]

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