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Article

Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.

Journal of human genetics - 1 Sept 2017

Bo Ryosuke, Yamada Kenji, Kobayashi Hironori, Jamiyan Purevsuren, Hasegawa Yuki, Taketani Takeshi, Fukuda Seiji, Hata Ikue, Niida Yo, Shigematsu Yosuke, Iijima Kazumoto, Yamaguchi Seiji

Abstract excerpt

Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder of mitochondrial fatty-acid oxidation. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is often reported in Caucasian countries due to a common mutation. However, the molecular and clinical basis of complete TFP deficiency has not been extensively reported. In this study, 14 Japanese cases (13 families) with...

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Source

Identifiers

PMID: 28515471
DOI: 10.1038/jhg.2017.52

Genes

HADHA
HADHB

Variants

Provenance

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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