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Article

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.

Molecular genetics and metabolism - 1 Dec 2016

Tajima Go, Hara Keiichi, Tsumura Miyuki, Kagawa Reiko, Okada Satoshi, Sakura Nobuo, Hata Ikue, Shigematsu Yosuke, Kobayashi Masao

Abstract excerpt

BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a representative disorder of fatty acid oxidation and is one of the most prevalent inborn errors of metabolism among Caucasian populations. In Japan, however, it was as late as 2000 when the first patient was found, and enzymatic and genetic evaluation of MCAD deficiency began. METHODS: We measured octanoyl-CoA dehydrogenase activity in...

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Source

Identifiers

PMID: 27856190
DOI: 10.1016/j.ymgme.2016.10.007

Genes

ACADM

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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