Preferred Label : Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency;
ICD-11 definition : 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.;
ICD-11 synonym : Methacrylic aciduria; Beta-hydroxyisobutyryl-CoA deacylase deficiency;
Origin ID : 1094336651;
Currated CISMeF NLP mapping
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.
