Study design and description of patients

European Journal of Pediatrics
P LutzU Batzler

Abstract

A West German multicentre study (eight centres) of PKU was designed in 1976. The subjects of the study are the differential diagnosis, factors influencing the therapeutic outcome, and the extension of dietary therapy into adolescence. Between 1978 and 1984, 165 patients were enrolled, of whom 38 were of non-German nationality. The educational and occupational status of the West German parents were comparable to the population of the Federal Republic of Germany. In the central data bank located at the University Childrens Hospital in Heidelberg, data from recurrent medical examinations and from biochemistry, dietetics, neurology, psychometry and demography were collected. The differential diagnosis of the elevated plasma Phe level in the newborn period resulted in the detection of 2 patients with a PTPS-deficiency, and of 163 with an apo-enzyme defect. Depending upon the magnitude of the Phe levels during the first weeks of life, preliminary treatment groups were formed. They were revised at the age of 6 months with a protein challenge. The levels of Phe during the protein challenge resulted in three types of response. Of these, type III can apparently forgo dietary restrictions resulting in plasma Phe concentrations of around 1...Continue Reading

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Citations

Jul 18, 2009·Journal of Inherited Metabolic Disease·U LangenbeckUNKNOWN German Collaborative Study on Phenylketonuria (PKU) / Hyperphenylalaninemia (HPA)
Jul 30, 1993·Clinica Chimica Acta; International Journal of Clinical Chemistry·F K TrefzH Bickel
Oct 1, 1994·Journal of Clinical and Experimental Neuropsychology·E SchmidtL de Sonneville
May 1, 1994·Acta Paediatrica·F SchaeferH J Bremer
May 1, 1995·Acta Paediatrica·A Rupp, P Burgard
Jan 1, 1990·European Journal of Pediatrics·U MichelU Batzler
Sep 23, 2011·Molecular Genetics and Metabolism·Nenad BlauUta Lichter-Konecki
Mar 1, 1997·Journal of Inherited Metabolic Disease·W Endres

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