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Article

Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.

Clinical chemistry - 1 Mar 2006

Das Anibh M, Illsinger Sabine, Lücke Thomas, Hartmann Hans, Ruiter Jos P N, Steuerwald Ulrike, Waterham Hans R, Duran Marinus, Wanders Ronald J A

Abstract excerpt

BACKGROUND: The human mitochondrial trifunctional protein (MTP) complex is composed of 4 hydroacyl-CoA dehydrogenase-alpha (HADHA) and 4 hydroacyl-CoA dehydrogenase-beta (HADHB) subunits, which catalyze the last 3 steps in the fatty acid beta-oxidation spiral of long-chain fatty acids. The HADHB...

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Source

Identifiers

PMID: 16423905
DOI: 10.1373/clinchem.2005.062000

Genes

HADHB
HADHA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16423905-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.PMID 16423905Read ↗

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

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.Semantic proximity Read ↗

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

MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.Semantic proximity Read ↗

An Autopsy Analysis of a Patient With Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Caused by Compound Heterozygous HADHA Gene Mutations.Semantic proximity Read ↗

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiencySemantic proximity Read ↗

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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