Catalog

Neonatal adrenoleukodystrophy

No MMS code

Link to WHO Definition

Neonatal adrenoleukodystrophy – http://id.who.int/icd/entity/478178009

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.