Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy.
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 beta-oxidation in mitochondria and/or peroxisomes, thus appears as an additional useful marker of these peroxisomal diseases.
D000015:Abnormalities, Multiple / Q000652:urine*; D000272:Adipates / Q000652:urine; D000326:Adrenoleukodystrophy / Q000652:urine*; D003652:Decanoic Acids / Q000652:urine; D003998:Dicarboxylic Acids / Q000652:urine*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000652:urine*; D005147:Facial Bones / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008099:Liver / Q000002:abnormalities; D008970:Molecular Weight; D012886:Skull / Q000002:abnormalities; D013577:Syndrome
D000272:Adipates; D003652:Decanoic Acids; D003998:Dicarboxylic Acids; C029900:adipic acid; C010038:azelaic acid