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Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

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Abstract

The interdependence of the predicted in vitro residual enzyme activity (PRA), as deduced from the complete genotypes of 64 hyperphenylalaninaemic patients, and parameters for diagnosis of hyperphenylalaninaemic disorders, the fluctuation of the phyenlylalanine (Phe) values during treatment, long-term dietary control during treatment, and a parameter for the outcome of therapy (IQ) was investigated by correlation analysis. A highly significant correlation was found between the PRA and diagnostic parameters, as well as the fluctuation of the Phe values during treatment. Significant correlations were also observed between the parameter describing the fluctuation of the Phe values and the IQ, as well as between the quality of dietary control and IQ. The PRA is a valuable tool for the differential diagnosis of hyperphenylalaninaemic disorders and for the prediction of one aspect of the course of the disease which is related to the intellectual outcome of therapy. The quality of dietary control was independent of the genotype, indicating that the outcome of therapy can be successfully manipulated in spite of the genetic make-up.

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Abbreviations

72h Phe :

phe level 72h after protein loading

MYM :

mean year median

PAH :

phenylalanine hydroxylase

Phe :

phenylalanine

PKU :

phenylketonuria

PRA :

predicted in vitro residual enzyme activity

SEE :

standard error of estimate

WISC-R :

Wechsler Intelligence Scale for Children-Revised

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Author notes

  1. U. Lichter-Konecki

    Present address: Centre for Medical Genetics, Marshfield Medical Research Foundation, 1000 North Oak Avenue, 54449, Marshfield, WI, USA

  2. F. K. Trefz

    Present address: Kreiskrankenhaus Reutlingen, Kinderklinik, Steinenbergstrasse 31, D-72764, Reutlingen

Authors and Affiliations

  1. The German Collaborative Study of Phenylketonuria, Department of General Pediatrics, University of Heidelberg, Im Neuenheimer Feld 150, D-69120, Heidelberg, Germany

    P. Burgard, A. Rupp, F. K. Trefz, H. Schmidt & U. Lichter-Konecki

  2. Centre for Medical Genetics, Marshfield Medical Research Foundation, 1000 North Oak Avenue, 54449, Marshfield, WI, USA

    D. S. Konecki

Authors
  1. P. Burgard
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  2. A. Rupp
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  3. D. S. Konecki
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  4. F. K. Trefz
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  5. H. Schmidt
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  6. U. Lichter-Konecki
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Burgard, P., Rupp, A., Konecki, D.S. et al. Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Eur J Pediatr 155 (Suppl 1), S11–S15 (1996). https://doi.org/10.1007/PL00014222

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