Belgian Genetic Tests database
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
| Name: |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
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| 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.
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| ORPHAcode: |
88639
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| Synonyms: |
HIBCH deficiency
Methacrylic aciduria
Valine metabolic defect
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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