Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Q86114): Difference between revisions
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13 August 2026
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Latest revision as of 11:28, 15 August 2026
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 <i> HIBCH</i> gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1094336651 |
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| English | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency |
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 <i> HIBCH</i> gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. |
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CID11:ID_1094336651
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dki-india-ID_1094336651
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Concluído
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13 August 2026
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