3-hydroxyisobutyryl-CoA hydrolase deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/3_hydroxyisobutryl_coa_hydrolase_deficiency https://www.malacards.org/card/3_hydroxyisobutyryl_coa_hydrolase_deficiency MONDO:0009603 MESH:C562803 UMLS:C0342738 neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 3-hydroxyisobutyryl-CoA hydrolase deficiency GARD:0013202 HIBCH deficiency DOID:0060949 methacrylic aciduria OMIM:250620 SCTID:722488009 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. MEDGEN:83349 Orphanet:88639 HIBCHD Beta-hydroxyisobutyryl-CoA deacylase deficiency classic organic aciduria inborn disorder of branched-chain amino acid metabolism valine metabolism disease Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency