Non-ketotic C6-C10-dicarboxylic aciduria: biochemical investigations of two cases.
Two boys, who are not related, with hypoglycemia and C6-C10-dicarboxylic aciduria were investigated. Besides substantial amounts of adipic, suberic and sebacic acids, the urinary metabolic profile of organic acids contained 5-OH-caproic acid and caproylglycine. During acute attacks the concentrations of adipic, suberic and sebacic acids were 300--530, 160--200 and 35--200 micrograms/mg creatinine, respectively, and the excretions of 5-OH-caproic acid and caproylglycine were 75--330 and 41--260 micrograms/mg creatinine, respectively. It is argued that the biosynthesis of adipic acid passes through an omega-oxidation, that the production of 5-OH-caproic acid is caused by an omega-1-oxidation, and that caproylglycine formation passes through a glycine-N-acylase catalysed conjugation of accumulated caproic acid in the patients. Suberic acid and sebacic acid are in the same way omega-oxidation products of accumulated caprylic acid and capric acid, respectively. From the excretion pattern presented it is hypothesized that the patients suffer from a defect in the dehydrogenation of fatty acids in the beta-oxidation pathway. The biological significance of the findings is discussed.
D000272:Adipates / Q000652:urine; D002208:Caproates / Q000652:urine; D002210:Caprylates; D002675:Child, Preschool; D002849:Chromatography, Gas; D003652:Decanoic Acids / Q000652:urine; D003998:Dicarboxylic Acids / Q000652:urine*; D044943:Fatty Acid Desaturases / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine; D006885:Hydroxybutyrates / Q000652:urine; D007003:Hypoglycemia / Q000652:urine*; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000652:urine*; D008297:Male; D013058:Mass Spectrometry; D014631:Valerates / Q000652:urine
D000272:Adipates; D002208:Caproates; D002210:Caprylates; D003652:Decanoic Acids; D003998:Dicarboxylic Acids; D005227:Fatty Acids; D006880:Hydroxy Acids; D006885:Hydroxybutyrates; D014631:Valerates; C024571:N-caproylglycine; C004961:beta-hydroxyisovaleric acid; C016502:5-hydroxyhexanoic acid; C005738:suberic acid; C011107:sebacic acid; D044943:Fatty Acid Desaturases; C020757:3-hydroxyisobutyric acid; D005998:Glycine