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Article

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

International journal of molecular medicine - 1 Jan 2007

Choi Jin-Ho, Yoon Hye-Ran, Kim Gu-Hwan, Park Seong-Jong, Shin Young-Lim, Yoo Han-Wook

Abstract excerpt

Patients with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency manifest hypoketotic hypoglycemia, hepatomegaly, hypotonia, lactic acidemia, acute renal failure, cardiomyopathy, and sudden death. We describe four novel mutations of the alpha- and beta-subunits of the mitochondrial trifunctional protein in four patients from three unrelated families. Their plasma acylcarnitine profiles suggested...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17143551

Genes

HADHB
HADHA

Variants

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.PMID 17143551Read ↗

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

Analysis of a family with mitochondrial trifunctional protein deficiency caused by 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 ↗

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

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

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

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

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

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.Semantic proximity Read ↗

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.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 ↗

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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