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3-hydroxyisobutyryl-CoA hydrolase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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 HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
Uniprot Description An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.
Mondo Term and Equivalent IDs
MONDO:0009603:  3-hydroxyisobutyryl-CoA hydrolase deficiency
GARD:0013202: 
MESH:C562803: 
Orphanet:88639: 
SCTID:722488009: