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GTR Home > Conditions/Phenotypes > Beta-hydroxyisobutyryl-CoA deacylase deficiency

Beta-hydroxyisobutyryl-CoA deacylase deficiency

Synonyms
3-hydroxyisobutyryl-CoA hydrolase deficiency; HIBCH DEFICIENCY; METHACRYLIC ACID TOXICITY; METHACRYLIC ACIDURIA; VALINE METABOLIC DEFECT
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) 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 (summary by Ferdinandusse et al., 2013). [from OMIM]

Available tests

39 tests are in the database for this condition.

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Clinical tests (39 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HIBYLCOAH, HIBCH
    Summary: 3-hydroxyisobutyryl-CoA hydrolase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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