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

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-ter...

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Bibliographic Details
Published in:European journal of pediatrics 1996-07, Vol.155 Suppl 1 (S1), p.S11-S15
Main Authors: Burgard, P, Rupp, A, Konecki, D S, Trefz, F K, Schmidt, H, Lichter-Konecki, U
Format: Article
Language:English
Subjects:
Alleles
Correlation analysis
Diagnosis
Differential diagnosis
Enzymatic activity
Enzyme Activation
Enzymes
Genotype
Genotypes
Humans
Hydroxylase
Infant
Infant, Newborn
Intelligence
Medical diagnosis
Phenylalanine
Phenylalanine 4-monooxygenase
Phenylalanine Hydroxylase - blood
Phenylalanine Hydroxylase - genetics
Phenylalanine Hydroxylase - metabolism
Phenylketonuria
Phenylketonurias - diagnosis
Phenylketonurias - diet therapy
Phenylketonurias - genetics
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/PL00014222