HIBCH Deficiency

About the Disease
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency, also known as valine metabolic defect, is related to dystonia and congenital hemidysplasia with ichthyosiform erythroderma and limb defects, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency is HIBCH (3-Hydroxyisobutyryl-CoA Hydrolase). Affiliated tissues include brain, and related phenotypes are vomiting and motor delay

Common Targets
HIBCH

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