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.
MONDO:0019215
classic organic aciduria
is_a
3-hydroxyisobutyryl-CoA hydrolase deficiency
exact
Beta-hydroxyisobutyryl-CoA deacylase deficiency
related
HIBCH deficiency
exact
HIBCHD
related
methacrylic aciduria
exact
neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
exact
SPBC2D10.09