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.

Abstract 

We report a patient with BH4-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were detected. In the tetrahydrobiopterin- (BH4) loading test, phenylalanine concentrations in serum fell significantly. Dihydropteridine reductase activity in blood, pterines, and neurotransmitters in cerebrospinal fluid, as well as pterines in urine were all normal. Mutation analysis revealed compound-heterozygosity for the mutations R408W and K320N. Under BH4-supplementation without a specific phenylalanine-reduced diet, phenylalanine-concentrations are in the therapeutic range and our patient developed normally.

Keywords:  Tetrahydrobiopterin, BH4, hyperphenylalaninaemia, PKU, HPA

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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

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