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ID:427 Dihydropteridine Reductase deficiency
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DescriptionBiopterin is needed as cofactor for phenylalanine, tryptophan & tyrosine hydroxylases, and NO synthase. A deficiency in synthesis or recycling of biopterin leads to problems in the metabolic pathways of these substances.
Additional Info
Concurrent Testsna
Dietary Requirementsna
InterpretationA deficiency leads to phenylketonuria type II or atypical PKU.

TubeGuthrie Card
Tube Picture
Collection Conditions 2 x 10mm bloodspots
Min. Vol2 spots
Freq.Referred to external laboratory

Ref. Range (Male)
Ref. Range (Female)
Ref. Range (Paed)
Ref. Range Notes 0.40 - 1.52 Ámol NADH/min/gHb, If the DHPR activity is > 0.40 the result is reported as normal
Units - Not Defined -
IP Acute TAT- Contact Laboratory
IP Routine TAT15 days
GP Acute TAT- Contact Laboratory
GP Routine TAT- Contact Laboratory
Turnround CommentNA

Originally edited by : . Review due on 22/11/2018 11:48:04. Published By on 22/11/2017 11:48:04.