die Immunologie- und Chromatographiespezialisten aus Deutschland

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Phenylketonuria is the most abundant genetic disorder of the amino acid metabolism. It is characterized by a lack of phenylalanine hydroxylase which causes an increase of phenylalanine in cells and body fluids. Due to the lack of enzyme activity phenylalanine, normaly metabolized to tyrosine, is converted to phenylpyruvic acid, which left untreated, can cause brain damage and progressive mental retardation. Additionally high concentrations of phenylalanine inhibit various enzymes which are involved in the synthesis of neurotransmitters and melanin. The incidence of occurrence is about 1 in 15000, varying widely in different populations.
Untreated children with phenylketonuria are normal at birth, but rather early they don´t attain early developmental milestones, show mental retardation, hyperactivity, convulsions, low pigmentation of the hair and alterations of the skin.

• determination of phenylalanine status
• phenylketonuria
• determination of tyrosine and tryptophan status

Principle of the method

For the determination of the analytes a sample preparation has to be performed. Therefore a precipitation solution, containing an internal standard, is added. After centrifugation the supernatant is injected into the HPLC system. The isocratic separation via HPLC at 30°C lasts 10 minutes. The chromatograms are recorded by a UV-detector. The quantification is performed with the delivered plasma calibrator; the concentration is calculated via the “internal standard method” by integration of the peak heights respectively areas.




Technical data
Sample Whole blood, plasma, filterspots
Sample volume 50 µl
Detector UV 210 nm
Method isocratic
Determinations 100

Ordering Information
IC4000 Testkit
IC4000ko Controls (2 level each 250 µl lyoph.)
IC4000rp HPLC column