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References OMIM Gene GeneReviews HGMD HGNC
last update : 21/11/07
Symbol NALD2
Location 12p13.3
Name neonatal adrenoleukodystrophy, autosomal 2
Other name(s) peroxisomal biogenesis disorder, Zellweger spectrum
Corresponding gene PEX5
Main clinical features
  • seizures from birth, delayed neurologic development which began to deteriorate at age 1 year, and sudden death, associated with respiratory infections
  • adrenal atrophy, systemic infiltration by abnormal lipid-laden macrophages, and elevations of saturated very-long-chain fatty acids
  • Genetic determination autosomal recessive
    Related entries PBD1
    Function/system disorder metabolism/peroxisomal
    Type disease
    Remark(s) neonatal adrenoleukodystrophy autosomal has also been observed with mutations in the peroxin-10 gene (PEX10), the peroxin-13 gene (PEX13), and the peroxin-26 gene (PEX26) (Dodt et al., 1995)