3-Hydroxyisobutyryl-Coa Hydrolase Deficiency

Alternative Names

  • HIBCHD
  • Beta-Hydroxyisobutyryl Coa Deacylase Deficiency
  • HIBCH Deficiency
  • Methacrylic Aciduria
  • Methacrylic Acid Toxicity
  • Valine Metabolic Defect
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

250620

Gene Map Locus

2q32.2

Description

3-Hydroxyisobutyryl-CoA hydrolase deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
250620.1.1LebanonFemaleYesYes Neurodegeneration; Dystonia; Progressive... NM_014362.4:c.196C>THomozygousAutosomal, RecessiveStiles et al. 2015
250620.1.2LebanonMaleYesYes Neurodegeneration; Dystonia; Progressive... NM_014362.4:c.196C>THomozygousAutosomal, RecessiveStiles et al. 2015 Sibling of 250620.1....
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