Journal of Inherited Metabolic Disease

, Volume 21, Issue 3, pp 240–242 | Cite as

Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings

  • N. G. G. M. Abeling
  • A. H. van Gennip
  • P. G. Barth
  • A. van Cruchten
  • M. Westra
  • F. A. Wijburg
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REFERENCES

  1. Abeling NGGM, Van Gennip AH, Overmars H, Voûte PA (1984) Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorimetric detection. Clin Chim Acta 137: 211–226.Google Scholar
  2. Hyland K, Clayton PT (1990) Aromatic amino acid decarboxylase deficiency in twins. J Inher Metab Dis 13: 301–304.Google Scholar
  3. Hyland K, Clayton PT (1992) Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology. Clin Chem 38: 2405–2410.Google Scholar
  4. Stroomer AEM, Overmars H, Abeling NGGM, Van Gennip AH (1990) Simultaneous detection of acidic 3,4–dihydroxy-phenylalanine metabolites and 5–hydroxy-indole-3–acetic acid in urine by high-performance liquid chromatography. Clin Chim Acta 36: 1834–1837.Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1998

Authors and Affiliations

  • N. G. G. M. Abeling
  • A. H. van Gennip
  • P. G. Barth
  • A. van Cruchten
  • M. Westra
  • F. A. Wijburg

There are no affiliations available

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