Journal of Inherited Metabolic Disease

, Volume 13, Issue 3, pp 315–320 | Cite as

The detection of abnormal metabolites in MCAD deficiency: a new method

  • W. Blom
  • A. C. Polder-Mol
  • H. H. Kelholt-Dijkman
  • L. Hierck
  • J. G. M. Huijmans
Short Communication

Keywords

Public Health Internal Medicine Metabolic Disease Abnormal Metabolite MCAD Deficiency 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Duran, M., de Klerk, J. B. C., Wadman, S. K., Bruinvis, L. and Ketting, D. The differential diagnosis of dicarboxylic aciduria.J. Inher. Metab. Dis. 7 Suppl. 1 (1984) 48–51Google Scholar
  2. Duran, M., Bruinvis, L., Ketting, D., de Klerk, J. B. C. and Wadman, S. K. Cis-4-decenoic acid in plasma: a characteristic metabolite in medium chain acyl-CoA dehydrogenase deficiency.Clin. Chem. 34 (1988) 548–551Google Scholar
  3. Kølvraa, S., Gregersen, N. and Hobolth, N. In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.Clin. Chim. Acta 126 (1982) 53–67Google Scholar
  4. Rinaldo, P., O'Shea, J. J., Coates, P. M., Hale, D. E., Stanley, C. A. and Tanaka, K. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.N. Engl. J. Med. 319 (1988) 1308–1313Google Scholar
  5. Rocchiccoli, J., Cartier, P. H. and Bougneres, P. F. Mass spectrometric identification of abnormal aromatic compounds in the urine of a child with Reye's like syndrome.Biomed. Mass Spectrom. 11 (1984) 127–134Google Scholar
  6. Roe, R. C., Millington, D. S., Maltby, D. A., Dohan, T. P., Kahler, S. G. and Chalmers, R. A. Diagnostic and therapeutic implications of medium-chain acyl-carnitine in medium-chain acyl-CoA dehydrogenase deficiency.Pediatr. Res. 19 (1985) 459–466Google Scholar
  7. Rumsby, G., Seakins, J. W. T. and Leonard, J. V. A simple screening test for medium-chain acyl-CoA dehydrogenase deficiency.Lancet 2 (1986) 467Google Scholar
  8. Vianey-Liaud, C., Divry, P., Gregersen, N. and Mathieu, M. The inborn errors of mitochondrial fatty acid oxidation.J. Inher. Metab. Dis. 10 Suppl. 1 (1987) 159–198Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1990

Authors and Affiliations

  • W. Blom
    • 1
  • A. C. Polder-Mol
    • 1
  • H. H. Kelholt-Dijkman
    • 1
  • L. Hierck
    • 1
  • J. G. M. Huijmans
    • 1
  1. 1.Department of Pediatrics, Metabolic Laboratory, Sophia Children's HospitalErasmus University RotterdamRotterdamThe Netherlands

Personalised recommendations