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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
    Magnetic resonance imaging of the brain in adolescents with phenyketonuria and in one case of 6-pyruvoyl tetrahydropteridine synthase deficiency (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S69 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Phenylalanine ; Magnetic resonance ; imaging ; Evoked potentials ; Myelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract White matter abnormalities on MRI have been observed in phenylketonuria (PKU) patients with late onset neurological symptoms as well as in neurologically inconspicious patients. We investigated 14 early treated adolescents at an age between 12 and 17 years (mean age 14.3 years) with classical PKU as well as one retarded patient with atypical PKU by cranial MRI with spinecho T1-, T2- and proton density sequences. Clinical examination was normal. Visual evoked potential (VEP) examination showed a prolonged latency of peak P100 (mean 122.6 ms; control mean 115.9) and IQ testing showed a mean IQ of 101.1. To investigate the influence of plasma phenylalanine (Phe) levels three approaches were used: Phe was determined for the day of MRI, for a period of 6 months prior to MRI and for lifetime up to 12 years. MRI scans revealed areas of abnormally increased signal intensity on T2-weighted and proton density images in 12 (86%) patients, preferably involving the parieto-occipital lobes. MRI of the patient with atypical PKU was normal. MRI findings correlated most strongly to long-term dietary control up to 12 years. We found no correlation with the other parameters of biochemical control, IQ or VEP latency. The nature and prognosis of MRI abnormalities in neurologically normal PKU patients remain unclear although abnormalities in VEPs which were not associated with the degree of MRI abnormalities in our sample indicate a disturbance in myelination along the visual pathways.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014255
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Intelligence and professional career in young adults treated early for phenylketonuria (1996)
    Springer
    European journal of pediatrics 155 (1996), S. S97 
    Details
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Intelligence ; Education ; Professional career ; Phenylalanine ; control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The intellectual status and professional careers of 51 young adults with phenylketonuria whose treatment started before 3 months of age are described. Their mean IQ was 97 (SD = 16). Of the IQs, 4% were more than 2 SD below the norm. The distribution of types of schooling of the patients was comparable to that in the German population. The professional careers of nearly all the patients were according to their educational level. Within the sample the outcome was significantly correlated with phenylalanine (Phe) control, even when the patients’ social background was statistically taken into account. The main influence of Phe on intelligence seems to occur during the first decade of life since IQ data remain stable even after Phe levels increased during adolescence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014262
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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