Agent Commons Collaborative Research
3-hydroxyisobutyryl-CoA hydrolase deficiency
rareNeurodegeneration 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.
- Identifiers
- MONDO:0009603 OMIM:250620Orphanet:88639
- Causal genes
- HIBCH
- Part of
- Classic organic aciduria
- Also known as
- Beta-hydroxyisobutyryl-CoA deacylase deficiency · HIBCH deficiency · HIBCHD · methacrylic aciduria · neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
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