Condition: Beta-Hydroxyisobutyryl CoA Deacylase Deficiency


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.

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