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Article

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.

Annals of clinical and laboratory science - 1 Jan 2009

Park Hyung-Doo, Kim Suk Ran, Ki Chang-Seok, Lee Soo-Youn, Chang Yun Sil, Jin Dong-Kyu, Park Won-Soon

Abstract excerpt

Mitochondrial trifunctional protein (MTP) is a heterocomplex composed of 4 alpha-subunits containing LCEH (long-chain 2,3-enoyl-CoA hydratase) and LCHAD (long-chain 3-hydroxyacyl CoA dehydrogenase) activity, and 4 beta-subunits that harbor LCKT (long-chain 3-ketoacyl-CoA thiolase) activity. MTP deficiency is an autosomal recessive disorder that causes a clinical spectrum of diseases ranging from severe infantile...

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Source

Identifiers

PMID: 19880769

Genes

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.

Related research

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Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.PMID 19880769Read ↗

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 ↗

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

Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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

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

Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.Semantic proximity Read ↗

A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.Semantic proximity Read ↗

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

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening.Semantic proximity Read ↗

HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.Semantic proximity Read ↗

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.Semantic proximity Read ↗

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