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Article

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Human mutation - 1 Jun 2003

Spiekerkoetter Ute, Sun Bin, Khuchua Zaza, Bennett Michael J, Strauss Arnold W

Abstract excerpt

The mitochondrial trifunctional protein (TFP) is a multienzyme complex of the fatty acid beta-oxidation cycle. It is composed of four alpha-subunits (HADHA) harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) and four beta-subunits (HADHB) harboring long-chain 3-ketoacyl-CoA thiolase (LKAT). Mutations in either subunit can result in TFP deficiency with reduced...

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Source

Identifiers

PMID: 12754706
DOI: 10.1002/humu.10211

Genes

HADHA
HADHB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.PMID 12754706Read ↗

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.Semantic proximity Read ↗

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Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.Semantic proximity Read ↗

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