Catalog

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

No MMS code

Link to WHO Definition

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency – http://id.who.int/icd/entity/1094336651

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised 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 <i> HIBCH</i> gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.