Hereditary tyrosinaemia type I: A long‐term study of the relationship between the urinary excretions of succinylacetone and δ‐aminolevulinic acid

DOI Web Site 1 Citations
  • H. Schierbeek
    Department of Pediatrics University of Groningen Groningen The Netherlands
  • G. J. J. Beukeveld
    Central Laboratory for Clinical Chemistry University Hospital of Groningen Groningen The Netherlands
  • H. van Faassen
    Department of Pediatrics University of Groningen Groningen The Netherlands
  • F. J. van Spronsen
    Department of Pediatrics University of Groningen Groningen The Netherlands
  • G. P. A. Smit
    Department of Pediatrics University of Groningen Groningen The Netherlands
  • K. Bijsterveld
    Department of Pediatrics University of Groningen Groningen The Netherlands
  • E. E. A. Venekamp‐Hoolsema
    Central Laboratory for Clinical Chemistry University Hospital of Groningen Groningen The Netherlands
  • B. G. Wolthers
    Central Laboratory for Clinical Chemistry University Hospital of Groningen Groningen The Netherlands

Bibliographic Information

Published
1993-04-19
Rights Information
  • http://onlinelibrary.wiley.com/termsAndConditions#vor
DOI
  • 10.1007/bf00711521
Publisher
Wiley

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<jats:title>Summary</jats:title><jats:p>Patients with hereditary tyrosinaemia type I (HT) excrete large amounts of succinylacetone (SA) in urine. Owing to structural resemblance of SA to δ‐aminolevulinic acid (ALA), SA inhibits the second enzyme in the pathway for haeme biosynthesis, porphobilinogen synthase, resulting in increased urinary ALA excretion. We investigated the relationship between urinary SA and ALA excretions of two patients with different forms of HT (late‐infantile and juvenile). In both patients the urinary SA and ALA excretions showed a more or less inverse correlation. The patient with the early‐infantile form of HT had a relatively greater increase in urinary SA and ALA excretions in comparison to the patient with the juvenile form of HT. A possible explanation for this unexpected inverse correlation between the urinary excretion of SA and ALA might be a lack of intramitochondrial glycine, a substrate for δ‐aminolevulinic acid synthesis. It has been reported previously that high concentrations of SA reversibly and competitively inhibit the transport of glycine through membranes.</jats:p>

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