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Article

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

American journal of medical genetics. Part A - 1 Dec 2014

Reuter Miriam S, Sass Jörn Oliver, Leis Thomas, Köhler Julia, Mayr Johannes A, Feichtinger René G, Rauh Manfred, Schanze Ina, Bähr Luzy, Trollmann Regina, Uebe Steffen, Ekici Arif B, Reis André

Abstract excerpt

HIBCH (3-hydroxyisobutyryl-CoA hydrolase) deficiency (MIM #250620) is a rare autosomal recessive inborn error of metabolism, leading to a block in the catabolic pathway of the amino acid valine and presumably to accumulation of toxic valine metabolites in mitochondria. Only three families with HIBCH deficiency and biallelic HIBCH mutations have been described. We report on a further patient, first child of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25251209
DOI: 10.1002/ajmg.a.36766

Genes

HIBCH

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.PMID 25251209Read ↗

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.Semantic proximity Read ↗

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.Semantic proximity Read ↗

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.Semantic proximity Read ↗

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.Semantic proximity Read ↗

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.Semantic proximity Read ↗

Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.Semantic proximity Read ↗

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.Semantic proximity Read ↗

Clinical and biochemical characterization of four patients with mutations in ECHS1.Semantic proximity Read ↗

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3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.Semantic proximity Read ↗

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.Semantic proximity Read ↗

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