Neonatal adrenoleukodystrophy (Q90615): Difference between revisions

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Latest 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
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.