Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria
DOI: 10.1016/0009-8981(79)90113-X
Title: Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria
Journal Title: Clinica Chimica Acta
Volume: 92
Issue: 2
Publication Date: 1 March 1979
Start Page: 187
End Page: 195
Published online: online 20 January 2003
ISSN: 0009-8981
Author: P. Schlesinger, B.M. Watsonb, R.G.H. Cotton, D.M. Danks
Affiliations:

  • Genetics Research Unit, Royal Children's Hospital, Parkville, Victoria 3052 Australia

  • b Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052 Australia
  • Abstract: nt of urinary dihydroxanthopterin is proposed as a simple method of recognition of patients with malignant hyperphenylalaninemia (MHPA). High levels of urinary dihydroxanthopterin are found in untreated patients with phenylketonuria (PKU) or with dihydropteridine reductase (DHPR) deficiency. After dietary control of the serum phenylalanine level in PKU, the urinary dihydroxanthopterin falls to near normal levels. In DHPR deficiency urinary dihydroxanthopterin levels are high even when serum phenylalanine levels are in the range achieved on dietary treatment. Low levels would be expected in patients with defects in tetrahydrobiopterin synthesis even before dietary treatment. Confirmation of the diagnosis of different forms of MHPA then requires more detailed studies, but dietary treatment of other PKU patients can proceed with confidence.
    Received: 21 August 1978

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