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Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Bennett MH, Sherwood WG (1993) The occurrence of 3-hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase. Clin Chem 39: 897–901.

    PubMed  Google Scholar 

  • Bennett MJ, Ragni MC, Hood I, Hale DE (1992) Comparison of post-mortem urinary and vitreous humour organic acids. Ann Clin Biochem 29: 541–545.

    PubMed  Google Scholar 

  • Bennett MJ, Weinberger MJ, Sherwood WG, Burlina AB (1994) Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 17: 283–286.

    PubMed  Google Scholar 

  • Bergoffen J, Kaplan P, Hale DE, Bennett MJ, Berry GT (1993) Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 16: 851–856.

    PubMed  Google Scholar 

  • Costa CG, Verhoeven NM, Kneepkens CMF, et al (1996) Organic acid profiles resembling a β-oxidation in two patients with coeliac disease. J Inher Metab Dis 2: 177–180.

    Google Scholar 

  • Dosman J, Crawhall JC, Klassen GA, Mamer OA, Neumann P (1974) Urinary excretion of C6-C10 dicarboxylic acids in glycogen storage disease types 1 and 3. Clin Chim Acta 51: 93–101.

    Article  PubMed  Google Scholar 

  • Greter J, Lindstedt S, Seeman H, Steen G (1980) 3-Hydroxydecanedioic acid and related homologues: urinary metabolites in ketoacidosis. Clin Chem 26: 261–265.

    PubMed  Google Scholar 

  • Hagenfeldt L, von Dobeln U, Holme E, et al (1990) 3-Hydroxydicarboxylic aciduria — a fatty acid oxidation defect with severe prognosis. J Pediatr 116: 387–392.

    PubMed  Google Scholar 

  • Hale DE, Thorpe C, Braat K, et al (1990) The L-3-hydroxyacyl-CoA dehydrogenase deficiency. Prog Clin Biol Res 321: 503–510.

    PubMed  Google Scholar 

  • Manning NJ, Olpin SE, Pollitt RJ, Webley J (1990) A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts. J Inher Metab Dis 13: 58–68.

    PubMed  Google Scholar 

  • Mayatepek E, Wanders RJ, Becker M, Bremer HJ, Hoffmann GF (1995) Mitochondriopathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria. J Inher Metab Dis 18: 249–252.

    PubMed  Google Scholar 

  • Pollitt RJ (1990) Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic aciduria. Prog Clin Biol Res 321: 495–502.

    PubMed  Google Scholar 

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Mize, C.E., Waber, L.J., Anderson, T. et al. Hypoketonuric 3-hydroxydicarboxylic aciduria in five patients with glycogen storage disease. J Inherit Metab Dis 20, 407–410 (1997). https://doi.org/10.1023/A:1005354701187

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