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  • 1
    Electronic Resource
    Electronic Resource
    Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S11 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Genotype ; Treatment ; IQ
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014222
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S33 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Dietary treatment ; Phenylalanine recommendations ; Intelligence ; development
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a multicentric and interdisciplinary approach the German Collaborative Study of Children Treated for Phenylketonuria (PKU) investigates prospectively the effects of early started strict dietary treatment on the growth and development of 140 patients. The present paper focuses on longitudinal intelligence data from 4, 5 and 9 years of age of 89 patients in relation to the quality of dietary control in comparison to 200 healthy children tested by the same protocol. Cluster analysis of phenylalanine (Phe) levels distinguished a cluster of good dietary control with Phe levels according to the recommendation of maintaining Phe levels below 360 μmol/l, a cluster of poor dietary control with Phe levels greater than 600 μmol/l after the age of 3 years, and a cluster of intermediate control. Intelligence quotients (IQ) and Phe clusters were inversely related with non-significant differences between the clusters good and intermediate. On average, all three clusters scored significantly lower than healthy age peers. Mean IQ scores decreased for patients as well as for healthy children due to different tests used at different measurement occasions. Patients with poor dietary control showed a steeper decrease between 4 and 5 years than patients with better dietary control. Between 5 and 9 years IQ differences between patients and healthy children remained stable. Verbal IQs were higher than performance IQs for patients as well as for healthy children. It is concluded that after early and strict treatment during the pre-school years Phe levels, in the range observed, do not influence IQ development until the age of 9 years. IQ subscale pattern indicate that PKU results in a generalized reduction of IQ instead of disturbing specific abilities. It remains to be investigated whether higher Phe levels are also innocuous and/or may result in late effects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014245
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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