/3-hydroxyisobutyryl-CoA hydrolase deficiency

3-hydroxyisobutyryl-CoA hydrolase deficiency

Rare Disease

MONDO:0009603

Also Known As

3-hydroxyisobutryl-CoA hydrolase deficiency3-hydroxyisobutyryl-CoA hydrolase deficiencyHIBCH deficiencymethacrylic acidurianeurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyBeta-hydroxyisobutyryl-CoA deacylase deficiencyHIBCHDbeta-hydroxyisobutyryl Coa deacylase deficiencymethacrylic acid toxicityvaline metabolic defect

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.