Ataxia due to Cerebrotendinous xanthomatosis (Q41033): Difference between revisions
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Ataxia no contexto de xantomatose cerebrotendinosa, um distúrbio autossômico recessivo raro do metabolismo dos ácidos biliares causado por uma mutação no gene CYP27A1, que codifica a enzima mitocondrial esterol 27-hidroxilase. O acúmulo de esteróis em múltiplos tecidos leva a cataratas prematuras e xantomas tendinosos no final da infância, seguidos por disfunção neurológica progressiva, como ataxia, demência e polineuropatia. | |||
| description / en | description / en | ||
Ataxia in the setting of cerebrotendinous xanthomatosis, a rare autosomal recessive disorder of bile acid metabolism caused by a mutation in the CYP27A1 gene encoding mitochondrial enzyme sterol 27-hydroxylase. Accumulation of sterols in multiple tissues leads to premature cataracts and tendon xanthomas in late childhood, followed by progressive neurological dysfunction such as ataxia, dementia, and polyneuropathy. | |||
Revision as of 07:04, 13 August 2026
Ataxia in the setting of cerebrotendinous xanthomatosis, a rare autosomal recessive disorder of bile acid metabolism caused by a mutation in the CYP27A1 gene encoding mitochondrial enzyme sterol 27-hydroxylase. Accumulation of sterols in multiple tissues leads to premature cataracts and tendon xanthomas in late childhood, followed by progressive neurological dysfunction such as ataxia, dementia, and polyneuropathy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A03.11 |
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| English | Ataxia due to Cerebrotendinous xanthomatosis |
Ataxia in the setting of cerebrotendinous xanthomatosis, a rare autosomal recessive disorder of bile acid metabolism caused by a mutation in the CYP27A1 gene encoding mitochondrial enzyme sterol 27-hydroxylase. Accumulation of sterols in multiple tissues leads to premature cataracts and tendon xanthomas in late childhood, followed by progressive neurological dysfunction such as ataxia, dementia, and polyneuropathy. |
