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Phenylketonuria (PKU) (colo)

The enzymatic reaction of the NEONATAL PKU Screening Assay is performed in 2 stages. In the first reaction, an enzyme, phenylalanine dehydrogenase, converts phenylalanine contained in the newborn sample to phenylpyruvate and NADH. Subsequently, the presence of NADH is quantified by colorimetry using tetrazolium salt. The measured absorbance intensity is then proportional to the phenylalanine concentration in the sample.

General information

Format: 288 – 576 – 1920 determinations
Storage: At 2-8°C
Possible automation: Semi-automatisation
Turn around time: Less than 1.5 hour

SKU: PKU-008 Categories: ,
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Description

This assay is for laboratory use and measures phenylalanine from dried blood spot samples (903® or 226). The enzymatic reaction uses phenylalanine dehydrogenase to convert phenylalanine to phenylpyruvate while reducing NAD+ to NADH. NADH is then used in a resazurin/diaphorase reaction producing a fluorescent signal (resorufin) whose intensity correlates with phenylalanine concentration.

Clinical features of untreated PKU include intellectual disability, microcephaly, epilepsy, hypersalivation, feeding difficulties, etc. Early dietary management to restrict phenylalanine is critical.

This fluorescent version offers greater sensitivity, with results in under 1.5 hours, compatible with both manual and automated workflows. Calibration curves and control materials are provided.

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