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Journal of Inherited Metabolic Disease

, Volume 12, Supplement 2, pp 295–298 | Cite as

Prenatal Diagnosis of Atypical Phenylketonuria

  • N. Blau
  • A. Niederwieser
  • H. Ch. Curtius
  • L. Kierat
  • W. Leimbacher
  • A. Matasovic
  • F. Binkert
  • H. Lehmann
  • D. Leupold
  • O. Guardamagna
  • A. Ponzone
  • H. Schmidt
  • T. Coskun
  • I. Özalp
  • R. Giugliani
  • G. Biasucci
  • M. Giovannini
Short Communication

Keywords

Amniotic Fluid Prenatal Diagnosis Neopterin Pterin Biopterin 
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. Arai, N., Narisawa, K., Hayakawa, H. and Tada, K. Hyperphenylalaninemia due to dihydropteridine reductase deficiency: Diagnosis by enzyme assays on dried blood spots. Pediatrics 70 (1982) 426–430PubMedGoogle Scholar
  2. Blau, N., Niederwieser, A., Curtius, H. Ch., Leimbacher, W., Kierat, L., Matasovic, A., Staudenmann, W. and Özalp, I., Prenatal diagnosis of tetrahydrobiopterin deficiency. In Curtius, H. Ch., Blau, N. and Levine, R. (eds.) Unconjugated Pterins and Related Biogenic Amines, Walter de Gruyter, Berlin, 1987, pp. 237–246Google Scholar
  3. Blau, N. Inborn errors of pterin metabolism. Annu. Rev. Nutr. 8 (1988) 185–209PubMedCrossRefGoogle Scholar
  4. Curtius, H. Ch., Kuster, Th., Matasovic, A., Blau, N. and Dhondt, J. L. Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins in a patient with hyperphenylalaninemia. Biochem. Biophys. Res. Commun. 153 (1988) 715–721PubMedCrossRefGoogle Scholar
  5. Niederwieser, A., Shintaku, H., Hasler, Th., Curtius, H. Ch., Lehmann, H., Guardamagna, O. and Schmidt, H. Prenatal diagnosis of ‘dihyrobiopterin synthetase’ deficiency, a variant form of phenylketonuria. Eur. J. Pediatr. 145 (1986) 176–178PubMedCrossRefGoogle Scholar
  6. Niederwieser, A. and Curtius, H. Ch. Tetrahydrobiopterin biosynthetic pathwav and deficiency. Enzyme 38 (1987) 302–311PubMedGoogle Scholar

Copyright information

© SSIEM and Springer Netherlands 1989

Authors and Affiliations

  • N. Blau
    • 1
  • A. Niederwieser
    • 1
  • H. Ch. Curtius
    • 1
  • L. Kierat
    • 1
  • W. Leimbacher
    • 1
  • A. Matasovic
    • 1
  • F. Binkert
    • 2
  • H. Lehmann
    • 3
  • D. Leupold
    • 3
  • O. Guardamagna
    • 4
  • A. Ponzone
    • 4
  • H. Schmidt
    • 5
  • T. Coskun
    • 6
  • I. Özalp
    • 6
  • R. Giugliani
    • 7
  • G. Biasucci
    • 8
  • M. Giovannini
    • 8
  1. 1.Division of Clinical Chemistry, Department of PediatricsUniversity of ZurichZurichSwitzerland
  2. 2.Institute of GeneticsUniversity of ZurichZurichSwitzerland
  3. 3.Department of PediatricsUniversity of UlmFRG
  4. 4.Department of PediatricsUniversity of TorinoItaly
  5. 5.Department of PediatricsUniversity of HeidelbergFRG
  6. 6.Institute of Child Health, Department of Pediatrics, Nutrition and MetabolismHacettepe UniversityAnkaraTurkey
  7. 7.Department of Medical GeneticsHospital of Porto AlegreBrazil
  8. 8.Department of PediatricsUniversity of MilanoItaly

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