3-hydroxyisobutyryl-CoA hydrolase deficiency
3-hydroxyisobutyryl-CoA hydrolase deficiency
Definition
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 — per MONDO