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ID:402 Biopterin Deficiency Screen
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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.
IndicationPatients with hyperphenylalaninaemia.
Additional Info
Concurrent Testsna
Dietary Requirementsna
InterpretationPhenylalanine at time of sampling must be >200umol/L in order to interpret results.

DepartmentBiochemistry
SampleBlood
TubeGuthrie Card
Tube Picture
Collection Conditions6 x 10mm bloodspots (1 extra 10mm spot if phenylalanine is not to be supplied)
Min. Vol6 spots
Freq.Referred to external laboratory .

Ref. Range (Male)Please contact the laboratory
Ref. Range (Female) Please contact the laboratory
Ref. Range (Paed) Please contact the laboratory
Ref. Range Notesdependent on the phenylalanine concentration
Unitsnmol/g (Hb)
IP Acute TATRefer to Website
IP Routine TAT15 days
GP Acute TATRefer to Website
GP Routine TATRefer to Website
Turnround CommentNA

Originally edited by : . Review due on 22/11/2018 08:49:33. Published By RB on 22/11/2017 08:49:33.