Pediatric Neurology
Volume 28, Issue 3 , Pages 228-230 , March 2003

BH4-sensitive hyperphenylalaninemia: new case and review of literature

  • Thomas Lücke, MD

      Affiliations

    • Corresponding Author InformationCommunications should be addressed to: Dr. Lücke; Carl-Neuberg Str. 1; 30623 Hannover, Germany.
    • Department of Paediatrics, Hanover Medical School, Hanover, Germany
    • ,
  • Sabine Illsinger, MD

      Affiliations

    • Department of Paediatrics, Hanover Medical School, Hanover, Germany
    • ,
  • Christa Aulehla-Scholz, PhD

      Affiliations

    • Institute of Clinical Genetics, Department of Paediatrics, General Hospital, Stuttgart, Germany
    • ,
  • Johannes Sander, MD, PhD

      Affiliations

    • Screening Lab Prof. Sander, Hanover, Germany
    • ,
  • Anibh M. Das, MD, PhD

      Affiliations

    • Screening Lab Prof. Sander, Hanover, Germany

Received 4 June 2002 ,Accepted 5 September 2002.

References 

  1. Thöny B, Auerbach G, Blau N. Tetrahydrobiopterin biosynthesis, regeneration and functions. Bioch J. 2000;347:1–16
  2. Blau N, Thöny B, Heizmann CW, Dhont JL. Tetrahydrobiopterin deficiency; From genotype to phenylalaninenotype. Pteridines. 1994;4:1–10
  3. Blau N, Thöny B, Cotton RGH, Hyland K. Disorders of tetrahydrobiopterin and related biogenic amines. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valla D,  Childs B,  Vogelstein B editor. The metabolic and molecular bases of inherited diseases, 8th ed. New York: McGraw Hill; 2001;p. 1725–1776
  4. Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, et al. Tetrahydrobiopterin-responsive phenylalaninenylalanine hydroxylase deficiency. J Ped. 1999;135:375–378
  5. Spaapen LJM, Bakker JA, Velter C, et al.  Tetrahydrobiopterin-responsive phenylalaninenylalanine hydroxylase deficiency in Dutch neonates. J Inherit Metab Dis. 2001;24:352–358
  6. Trefz F, Blau N, Aulehla-Scholz C, Korall H, Frauendienst-Egger K. Treatment of mild phenylketonuria (PKU) by tetrahydrobiopterin (BH4). J Inherit Metab Dis. 2000;23(Suppl 1):47
  7. Lindner M, Haas D, Zschocke J, Burgard P. Tetrahydrobiopterin responsiveness in phenylalaninenylketonuria differs between patients with the same genotype. Mol Genet Metab. 2001;73:104–106
  8. Steinfeld R, Kohlschütter A, Zschocke J, Lindner M, Ullrich K, Lukacs Z. Tetrahydrobiopterin-responsiveness associated with common phenylalaninenylalanine; Hydroxylase mutations distant from the tetrahydrobiopterin binding site. J Inherit Metab Dis. 2001;24:29
  9. Nuoffer JM, Thöny B, Romstad A, Blau N. A patient with Phenylketonuria successfully treated with Tetrahydrobiopterin. J Inherit Metab Dis. 2001;24:29
  10. Trefz F, Aulehla-Scholz C, Blau N. Successful treatment of phenylalaninenylketonuria with tetrahydrobiopterin. Eur J Paed. 2001;160:315
  11. Erlandsen H, Stevens RC. A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninenylalaninaemia and phenylalaninenylketonuria. J Inherit Metab Dis. 2001;24:213–230
  12. DiLella AG, Marvit J, Brayton K, Woo SLC. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype2. Nature. 1987;327:333–338

PII: S0887-8994(02)00516-7

doi: 10.1016/S0887-8994(02)00516-7

Pediatric Neurology
Volume 28, Issue 3 , Pages 228-230 , March 2003

Article Tools

* Image Usage & Resolution