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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.

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 : . Last edited on 22/11/2018 08:49:33. Published By RB on 22/11/2017 08:49:33.