Variant: rs121918329 

    present in Gene: HIBCH
    present in Chromosome: 2
    Position on Chromosome: 190290425
    Alleles of this Variant: T/C

rs121918329 in HIBCH gene and Beta-Hydroxyisobutyryl CoA Deacylase Deficiency PMID 17160907 2007 Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

rs121918329 in HIBCH gene and Muscle hypotonia PMID 26026795 2015 Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.

PMID 17160907 2007 Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

PMID 25251209 2014 HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

PMID 24299452 2013 HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

PMID 26163321 2015 Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.

PMID 21104317 2012 Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway.

PMID 25591832 2015 Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.