Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Classic organic aciduria · Inborn disorder of branched-chain amino acid metabolism · Valine metabolism disease
3-hydroxyisobutyryl-CoA hydrolase deficiency
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.
This condition has no sub-types.