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Monoamine oxidase A deficiency: Biogenic amine metabolites in random urine samples

  • N. G. G. M. Abeling
  • A. H. van Gennip
  • A. G. van Cruchten
  • H. Overmars
  • H. G. Brunner
Part of the Journal of Neural Transmission. Supplement book series (NEURAL SUPPL, volume 52)

Summary

We have recently described an association between abnormal behaviour and monoamine oxidase A (MAO-A) deficiency in several males from a single large Dutch kindred. A characteristically abnormal excretion pattern of biogenic amine metabolites was present in 24-hour urine of affected males. Because of this strikingly abnormal metabolite pattern observed in 24 hour urine samples of MAO-A deficient males we hypothesized that it should be possible to diagnose this condition by examining random urine samples. We therefore studied multiple urine samples obtained over a two-week study period from two males with selective MAO-A deficiency. The results demonstrate that the characteristic abnormalities in the excretion of biogenic amines and their metabolites were faithfully present in every one of 12 independent samples obtained from the MAO-A deficient males over the two-week study period. We conclude that MAO-A deficiency can be reliably diagnosed by measuring the ratio of normetanephrine (NMN) to VMA (or that of NMN to MHPG) in random urine samples.

Keywords

Monoamine Oxidase Biogenic Amine Affected Male Random Urine Sample Healthy Unrelated Control 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Abeling NGGM, van Gennip AH, Overmars H, Voute P (1984) Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorimetric detection. Clin Chim Acta 137: 211–226PubMedCrossRefGoogle Scholar
  2. Abeling NGGM, van Gennip AH, Overmars H, van Oost BA, Brunner HG (1994) Biogenic metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis. J Inher Metab Dis 17: 339–341PubMedCrossRefGoogle Scholar
  3. Brunner HG, Nelen MR, van Zandvoort P, Abeling NGGM, van Gennip AH, Wolters EC, Kuiper MA, Ropers HH, van Oost BA (1993a) X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet 52:1032–1039PubMedGoogle Scholar
  4. Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA (1993b) Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262: 578–580PubMedCrossRefGoogle Scholar
  5. Lenders JWM, Eisenhofer G, Abeling NGGM, Berger W, Murphy DL, Konings CH, Bleeker Wagemakers LM, Kopin IJ, Karoum F, van Gennip AH, Brunner HG (1996) Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. J Clin Invest 97: 1010–1019PubMedCrossRefGoogle Scholar
  6. Stroomer AEM, Overmars H, Abeling NGGM, van Gennip AH (1990) Simultaneous detection of acidic 3,4,-dihydroxyphenylalanine metabolites and 5-hydroxy-indole-3-acetic acid in urine by high performance liquid chromatography. Clin Chim Acta 36: 1834–1837Google Scholar

Copyright information

© Springer-Verlag Wien 1998

Authors and Affiliations

  • N. G. G. M. Abeling
    • 1
    • 3
  • A. H. van Gennip
    • 1
  • A. G. van Cruchten
    • 1
  • H. Overmars
    • 1
  • H. G. Brunner
    • 2
  1. 1.Department of Clinical Chemistry and Department of PediatricsAcademic Medical Center, University of AmsterdamAmsterdamThe Netherlands
  2. 2.Department of Human GeneticsUniversity HospitalNijmegenThe Netherlands
  3. 3.Academic Medical Center Laboratory for Genetic Metabolic DiseasesAmsterdamThe Netherlands

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