neonatal adrenoleukodystrophy
Quick Summary
Neonatal adrenoleukodystrophy (NALD) is a rare, inherited metabolic disorder that affects the central nervous system. It is a type of peroxisomal disorder, meaning it involves a deficiency in peroxisomes, which are cellular organelles crucial for breaking down very-long-chain fatty acids.12
NALD typically presents in infancy with severe neurological impairment, including decreased muscle tone, seizures, and cerebral malformations. Other symptoms can include eye abnormalities and an enlarged liver. This condition is usually inherited in an autosomal recessive pattern, though a related disorder, X-linked adrenoleukodystrophy (X-ALD), is inherited differently. There is no specific treatment for NALD, and it is often fatal early in life.2
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