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Article

Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.

JCI insight - 10 Sept 2024

Vieira Neto Eduardo, Wang Meicheng, Szuminsky Austin J, Ferraro Lethicia, Koppes Erik, Wang Yudong, Van't Land Clinton, Mohsen Al-Walid, Zanatta Geancarlo, El-Gharbawy Areeg H, Anthonymuthu Tamil S, Tyurina Yulia Y, Tyurin Vladimir A, Kagan Valerian, Bayır Hülya, Vockley Jerry

Abstract excerpt

Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder leading to a block in long-chain fatty acid β-oxidation. Mutations in HADHA and HADHB, which encode the TFP α and β subunits, respectively, usually result in combined TFP deficiency. A single common mutation, HADHA c.1528G>C (p.E510Q), leads to isolated 3-hydroxyacyl-CoA dehydrogenase deficiency. TFP also catalyzes a step in...

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Source

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Identifiers

PMID: 39088276
DOI: 10.1172/jci.insight.176887
PMCID: PMC11385086

Genes

HADHA
HADHB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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