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Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Disease 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 HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
ORPHA:88639
Classification level: Disorder- Synonym(s):
- HIBCH deficiency
- Methacrylic aciduria
- Valine metabolic defect
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy
- ICD-10: E71.1
- OMIM: 250620
- UMLS: C0342738
- MeSH: -
- GARD: -
- MedDRA: -
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