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GENATLAS PHENOTYPE
last update : 21/11/07
Symbol NALD1
Location 7q21.2
Name neonatal adrenoleukodystrophy, autosomal
Corresponding gene PEX1
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
    Function/system disorder
    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)