3-hydroxyisobutyryl-CoA hydrolase deficiency

MONDO:0009603

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

Also known as: 3-hydroxyisobutyryl-CoA hydrolase deficiency, HIBCH deficiency, methacrylic aciduria, neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency, Beta-hydroxyisobutyryl-CoA deacylase deficiency, HIBCHD, beta-hydroxyisobutyryl Coa deacylase deficiency, methacrylic acid toxicity

0 clinical trials for this condition and its sub-types, 0 tagged with 3-hydroxyisobutyryl-CoA hydrolase deficiency itself.

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↑ Classic organic aciduria (20) ↑ Inborn disorder of branched-chain amino acid metabolism (4) ↑ Valine metabolism disease (0)

Including sub-types (0) Tagged with 3-hydroxyisobutyryl-CoA hydrolase deficiency (0)

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