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GENATLAS PHENOTYPE

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)