Neonatal adrenoleukodystrophy (Q90615): Difference between revisions
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A adrenoleucodistrofia neonatal é uma doença neurodegenerativa rara que pertence ao grupo das doenças peroxissomais hereditárias e que se caracteriza por convulsões desde o nascimento, encefalopatia difusa,corioretinopatia e displasia do nervo óptico, deficiência auditiva neurossensorial, neuropatia periférica, dismorfismo facial, deficiência de crescimento, desenvolvimento psicomotor gravemente atrasado e múltiplas anormalidades bioquímicas, incluindo níveis plasmáticos aumentados de ácidos graxos de cadeia muito longa, ácido fitânico e ácido tri-hidroxicoprostânico do fluido biliar. | |||
| description / en | description / en | ||
Neonatal adrenoleukodystrophy is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and that is characterised by seizures from birth, diffuse encephalopathy, chorioretinopathy and optic nerve dysplasia, sensorineural hearing deficiency, peripheral neuropathy, facial dysmorphism, failure to thrive, severely delayed psychomotor development and multiple biochemical abnormalities, including increased plasma levels of very-long-chain fatty acids (VLCFA), phytanic acid and bile fluid trihydroxycoprostanic acid. | |||
Revision as of 17:36, 15 August 2026
Neonatal adrenoleukodystrophy is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and that is characterised by seizures from birth, diffuse encephalopathy, chorioretinopathy and optic nerve dysplasia, sensorineural hearing deficiency, peripheral neuropathy, facial dysmorphism, failure to thrive, severely delayed psychomotor development and multiple biochemical abnormalities, including increased plasma levels of very-long-chain fatty acids (VLCFA), phytanic acid and bile fluid trihydroxycoprostanic acid.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_478178009 |
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| English | Neonatal adrenoleukodystrophy |
Neonatal adrenoleukodystrophy is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and that is characterised by seizures from birth, diffuse encephalopathy, chorioretinopathy and optic nerve dysplasia, sensorineural hearing deficiency, peripheral neuropathy, facial dysmorphism, failure to thrive, severely delayed psychomotor development and multiple biochemical abnormalities, including increased plasma levels of very-long-chain fatty acids (VLCFA), phytanic acid and bile fluid trihydroxycoprostanic acid. |
