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autosomal neonatal adrenoleukodystrophy

Tuesday 23 September 2003

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).