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European Journal of Pediatrics

, Volume 158, Issue 1, pp 46–54 | Cite as

Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997

  • P. Burgard
  • H. J. Bremer
  • P. Bührdel
  • P. C. Clemens
  • E. Mönch
  • H. Przyrembel
  • F. K. Trefz
  • K. Ullrich
METABOLIC DISEASES

Abstract

Treatment of hyperphenylalaninaemias due to phenylalanine hydroxylase deficiency with a low phenylalanine (Phe) diet is highly successful in preventing neurological impairment and mental retardation. There is consensus that, for an optimal outcome, treatment should start as early as possible, and that strict blood Phe level control is of primary importance during the first years of life, but for adolescent and adult patients international treatment recommendations show a great variability. A working party of the German Working Group for Metabolic Diseases has evaluated research results on IQ data, speech development, behavioural problems, educational progress, neuropsychological results, electroencephalography, magnetic resonance imaging, and clinical neurology. Based on the actual knowledge, recommendations were formulated with regard to indication of treatment, differential diagnosis, and Phe level control during different age periods. The development of the early-and-strictly-treated patient in middle and late adulthood still remains to be investigated. Therefore, the recommendations should be regarded as provisional and subject to future research. Efficient treatment of phenylketonuria has to go beyond recommendations for blood Phe level control and must include adequate dietary training, medical as well as psychological counselling of the patient and his family, and a protocol for monitoring outcome.

Conclusions Early-and-strictly-treated patients with phenylketonuria show an almost normal development. During the first 10 years treatment should aim at blood Phenyl-alanine levels between 40 and 240 μmol/L. After the age of 10, blood phenylalanine level control can be gradually relaxed. For reasons of possible unknown late sequelae, all patients should be followed up life-long.

Key words Phenylketonuria Hyperphenylalaninaemia Phenylalanine levels Treatment recommendations 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • P. Burgard
    • 1
  • H. J. Bremer
    • 2
  • P. Bührdel
    • 3
  • P. C. Clemens
    • 4
  • E. Mönch
    • 5
  • H. Przyrembel
    • 6
  • F. K. Trefz
    • 7
  • K. Ullrich
    • 8
  1. 1.Fachrichtung Psychologie, Universität des Saarlandes, Im Stadtwald, D-66123 Saarbrücken, Germany, e-mail: p.burgard@cops.uni-sb.de, Tel: +49-681-3022938, Fax: +49-681-3024792DE
  2. 2.Universitäts-Kinderklinik Heidelberg, Im Neuenheimer Feld 150, D-69120 Heidelberg, GermanyDE
  3. 3.Universität Leipzig, Univ.-Klinik für Kindermedizin, Oststraße 21-25, D-04317 Leipzig, GermanyDE
  4. 4.Klinikum Schwerin Kinderklinik, Wismarsche Straße 397, D-19049 Schwerin, GermanyDE
  5. 5.Virchow-Klinikum, Medizinische Fakultät der Humboldt-Universität zu Berlin, Augustenburger Platz 1, D-13344 Berlin
  6. 6.Bundesinstitut für gesundheitlichen Verbraucherschutz und Veterinärmedizin, Postfach 330013, D-14191 Berlin, GermanyDE
  7. 7.Kreiskrankenhaus Reutlingen Kinderklinik, Steinenbergstrasse 31, D-72764 Reutlingen, GermanyDE
  8. 8.Universitäts-Krankenhaus Eppendorf Kinderklinik, Martinistrasse 52, D-20246 Hamburg, GermanyDE

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