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Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.

Molecular genetics and metabolism - 1 Sept 2012

Purevsuren Jamiyan, Hasegawa Yuki, Fukuda Seiji, Kobayashi Hironori, Mushimoto Yuichi, Yamada Kenji, Takahashi Tomoo, Fukao Toshiyuki, Yamaguchi Seiji

Abstract excerpt

We report the outcome of 16 Japanese patients with medium chain acyl-CoA dehydrogenase deficiency. Of them, 7 patients were diagnosed after metabolic crisis, while 9 were detected in the asymptomatic condition. Of the 7 symptomatic cases, 1 died suddenly, and 4 cases had delayed development. All 9 patients identified by neonatal or sibling screening remained healthy. Of 14 mutations identified, 10 were unique for...

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PMID: 22796001
DOI: 10.1016/j.ymgme.2012.06.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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