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Biopterins
(a.k.a Dihydropteridine Reductase (DHPR))
minimum sample volume required ~ 5ml
Tube type: SST
Special instructions
Supply phenylalanine concentration. Fresh blood spots (two 10mm spots) for DHPR analysis
Sent away
to Birmingham Children's Hospital NHS Trust
Reference range
See report or contact lab
Turnaround Time
21
days
Department: Biochemistry
Clinical Application
In a small number of cases where raised levels of phenylalanine are found, there is no defect in phenylalanine hydroxylase (PAH), as in typical PKU, but a defect in the synthesis of a cofactor, biopterin.
