Excretion of 3,6-epoxydicarboxylic acids in peroxisomal disorders.
The urinary excretions of several organic acids were quantitatively studied by gas chromatography/mass spectrometry in subjects with disorders of peroxisome biogenesis (n = 8) and controls (n = 26). The excretion of 3,6-epoxtetradecanedioic acid was significantly elevated in all subjects with disorders of peroxisome biogenesis (1.8-20.8; controls, not detected-0.5, mumol/mmol of creatinine). 3,6-Epoxydodecanedioic acid excretion was usually elevated (1.4-19.8; controls, not detected-4.2) and 3,6-epoxyoctanedioic acid excretion was not elevated not detected-8.8; controls, 0.6-9.5 mumol/mmol of creatinine). It is suggested that measurement of 3,6-epoxydicarboxylic acids may be useful for the diagnosis of these disorders.
Pitt
J J
JJ
Department of Clinical Biochemistry, Royal Children's Hospital, Melbourne, Australia.
Poulos
A
A
D000326:Adrenoleukodystrophy / Q000652:urine*; D002210:Caprylates; D002675:Child, Preschool; D003652:Decanoic Acids / Q000652:urine; D003998:Dicarboxylic Acids / Q000652:urine*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008830:Microbodies / Q000378:metabolism*; D012035:Refsum Disease / Q000652:urine*; D015211:Zellweger Syndrome / Q000652:urine*
D002210:Caprylates; D003652:Decanoic Acids; D003998:Dicarboxylic Acids; C005738:suberic acid; C011107:sebacic acid