Mass spectrometric identification of 2-hydroxy-sebacic acid in the urines of patients with neonatal adrenoleukodystrophy and Zellweger syndrome.
The urines of children with neonatal adrenoleukodystrophy and Zellweger syndrome contained an excess of unusual even- and odd-numbered dicarboxylic acids with a chain length of from 5 to 15 carbon atoms, as well as 2-hydroxy-compounds, including 2-hydroxy-isocaproate, 2-hydroxy-glutarate and 2-hydroxy-sebacate. The latter product, not previously found in metabolic diseases, appears as an additional useful marker of these peroxisomal disorders.
D000307:Adrenal Gland Diseases / Q000652:urine*; D000326:Adrenoleukodystrophy / Q000652:urine*; D001927:Brain Diseases / Q000652:urine*; D003652:Decanoic Acids / Q000652:urine*; D003998:Dicarboxylic Acids / Q000652:urine*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000652:urine*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine*; D007202:Indicators and Reagents; D007231:Infant, Newborn; D008107:Liver Diseases / Q000652:urine*; D013058:Mass Spectrometry; D013577:Syndrome
D003652:Decanoic Acids; D003998:Dicarboxylic Acids; D006880:Hydroxy Acids; D007202:Indicators and Reagents; C049854:2-hydroxysebacic acid