Journal of Inherited Metabolic Disease

, Volume 1, Issue 2, pp 49–53 | Cite as

Malignant hyperphenylalaninaemia—Current status (June 1977)

  • D. M. Danks
  • K. Bartholomé
  • B. E. Clayton
  • H. Curtius
  • H. Gröbe
  • S. Kaufman
  • R. Leeming
  • W. Pfleiderer
  • H. Rembold
  • F. Rey
Article

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References

  1. Bartholomé, K., Byrd, D. J. and Kaufman, S. (1977). Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activityin vitro.Pediatrics,59, 757PubMedGoogle Scholar
  2. Brewster, T. G., Abroms, I. F., Kaufman, S., Breslow, J. L., Moskowitz, K. A., Villee, D. B. and Snodgrass, R. S. (1976). Atypical PKU, seizures and developmental delay with dihydropteridine reductase deficiency.Pediatr. Res. 10, 446Google Scholar
  3. Danks, D. M., Cotton, R. G. H. and Schlesinger, P. (1975). Tetrahydrobiopterin treatment of variant form of phenylketonuria.Lancet,ii, 1043Google Scholar
  4. Danks, D. M., Cotton, R. G. H. and Schlesinger, P. (1976). Variant forms of phenylketonuria.Lancet,i, 1236Google Scholar
  5. Kaufman, S., Holtzman, N. A., Milstein, S., Butler, I. J. and Krumholz, A. (1975). Phenylketonuria due to a deficiency of dihydropteridine reductase.N. Engl. J. Med.,293, 785PubMedGoogle Scholar
  6. Leeming, R. J., Blair, J. A., Green, A. and Raine, D. N. (1976). Biopterin derivatives in normal and phenylketonuria patients after oral doses of L-phenylalanine, L-tyrosine and L-tryptophan.Arch. Dis. Child.,51, 771PubMedGoogle Scholar
  7. Milstein, S., Holtzman, N. A., O'Flynn, M. E., Thomas, G. H., Butler, I. J. and Kaufman, S. (1976). Hyperphenyl-alaninemia due to dihydropteridine reductase deficiency.J. Paediatr.,89, 763Google Scholar
  8. Milstein, S., Orloff, S., Spielberg, S., Berlow, S., Schulman, J.D. and Kaufman, S. (1977). Hyperphenylalaninemia due to phenylalanine hydroxylase cofactor deficiency.Pediatr. Res.,11, 460Google Scholar
  9. Rembold, H. (1978). Metabolism and metabolic roles of 6-polyhydroxyalkyl pterins.J. Inher. Metab. Dis.,1, 61PubMedGoogle Scholar
  10. Rey, F., Harpey, J. P., Leeming, R. J., Aicardi, J. and Rey, J. (1977). Les hyperphenylalaninémies avec activité normale de la phenylalanine-hydroxylase.Arch. Franç. Péd.,34, Supplement 2, 109Google Scholar
  11. Smith, I., Clayton, B. E. and Wolff, O. H. (1975). New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.Lancet,i, 1108Google Scholar
  12. Watson, B. M., Schlesinger, P. and Cotton, R. G. H. (1977). Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients.Clin. Chim. Acta,78, 417PubMedGoogle Scholar

Copyright information

© MTP Press Limited 1978

Authors and Affiliations

  • D. M. Danks
    • 1
  • K. Bartholomé
    • 2
  • B. E. Clayton
    • 3
  • H. Curtius
    • 4
  • H. Gröbe
    • 5
  • S. Kaufman
    • 6
  • R. Leeming
    • 7
  • W. Pfleiderer
    • 8
  • H. Rembold
    • 9
  • F. Rey
    • 10
  1. 1.Royal Children's Hospital, ParkvilleMelbourneAustralia
  2. 2.Kinderklinik der UniversitätHeidelberg 1West Germany
  3. 3.Department of Chemical PathologyHospital for Sick ChildrenLondon
  4. 4.Biochemistry DepartmentKinderspitalZurichSwitzerland
  5. 5.Children's HospitalUniversity of MünsterMunsterWest Germany
  6. 6.Laboratory of NeurochemistryNational Institute of Mental HealthBethesdaUSA
  7. 7.Microbiology DepartmentThe General HospitalBirminghamUK
  8. 8.Fachbereich ChemieUniversität KonstanzConstanceWest Germany
  9. 9.Max-Planck Institut für BiochemieMartinsried bei MünchenMunichWest Germany
  10. 10.Hopital des Enfants MaladesParisFrance

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