Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Q86114): Difference between revisions
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Neurodegeneração devida a deficiência de 3-hidroxi-isobutiril-CoA hidrolase é caracterizada por atraso do desenvolvimento motor, hipotonia e neurodegeneração progressiva. até o momento, foi descrita em 4 garotos. A síndrome é causada por mutações que afetam dois alelos do gene HIBCH, que codifica a 3-hidroxi-isobutiril-CoA hidrolase. O modo de transmissão ainda não está estabelecido. | |||
| description / en | description / en | ||
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. | |||
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. |
