Neonatal adrenoleukodystrophy is one of the mild phenotype of the disorders of peroxisome biogenesis that have 12 complementation groups.
Clinical synopsis
dolichocephaly
prominent forehead
high forehead
peculiar facies
neonatal polar cataracts
esotropia
epicanthal folds
broad nasal bridge
anteverted nostrils
high-arched palate
low-set ears
cutaneous hyperpigmentation (tanning)
mental retardation
seizures
adrenal insufficiency
Laboratory
elevated long chain fatty acids
Etiology
Neonatal adrenoleukodystrophy is caused by mutations in the PTS1 receptor gene (PXR1) (MIM.600414) or the peroxin-1 gene (PEX1) (MIM.602136).
NALD has also been observed with mutations in the peroxin-10 gene (PEX10) (MIM"602859), the peroxin-13 gene (PEX13) (MIM.601789), and the peroxin-26 gene (PEX26) (MIM.608666).