Urinary organic acids in peroxisomal disorders: a simple screening method.

[neonatal adrenoleukodystrophy]

Using GC -MS , we studied urinary organic acids in 20 Japanese patients with peroxisomal disorders , including Zellweger syndrome (ZS ), neonatal adrenoleukodystrophy , and single deficiency of peroxisomal beta -oxidation enzymes . Non-ketotic dicarboxylic aciduria with elevated sebacate /adipate molar ratio was observed in 19 of the 20 patients . Elevation of 2 -hydroxysebacate and epoxydicarboxylic acids were seen in 13 and 18 , respectively . Tyrosyluria was remarkable in all patients . In two ZS patients , we tracked the time course from birth to infancy , and all the above stated findings were detected , except for one sample . Urinary organic acid analysis is indeed useful for screening subjects with peroxisomal disorders .