has material basis in germline mutation in
HIBCH
3-hydroxyisobutyryl-CoA hydrolase deficiency
https://github.com/monarch-initiative/mondo/issues/4521
https://github.com/monarch-initiative/mondo/issues/4985
MONDO:0009603
3-hydroxyisobutryl-CoA hydrolase deficiency
MESH:C562803
neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
3-hydroxyisobutyryl-CoA hydrolase deficiency
HIBCH deficiency
methacrylic aciduria
beta-hydroxyisobutyryl Coa deacylase deficiency
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.
GARD:13202
Orphanet:88639
HIBCHD
methacrylic acid toxicity
Beta-hydroxyisobutyryl-CoA deacylase deficiency
valine metabolic defect
classic organic aciduria
inborn disorder of branched-chain amino acid metabolism
valine metabolism disease