Medium- and Long-Chain Dicarboxylic Aciduria in Patients with Zellweger Syndrome and Neonatal Adrenoleukodystrophy

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Abstract
This study reports that patients with neonatal adrenoleukodystrophy and Zellweger syndrome excrete a very peculiar pattern of organic acids. Dicarboxylic acids with an even number of carbon atoms (adipic, suberic, sebacic, 2- and 3-hydroxy-sebacic, hexadecanedioic), as well as with an odd number of carbon atoms (pimelic, azelaic, un-, tri-, and pentadecanedioic) were found in excess in the urines of six patients with neonatal adrenoleukodystrophy and one with Zellweger syndrome. The accumulation of dicarboxylic acids, reflecting an impairment of their β-oxidation in mitochondria and/or peroxisomes, thus appears as an additional useful marker of these peroxisomal diseases.