|Description||Biopterin 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.|
|Interpretation||A deficiency leads to phenylketonuria type II or atypical PKU.
|Collection Conditions|| 2 x 10mm bloodspots|
|Min. Vol||2 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 TAT||15 days|
|GP Acute TAT||- Contact Laboratory|
|GP Routine TAT||- Contact Laboratory|
Originally edited by : . Review due on 22/11/2018 11:48:04. Published By on 22/11/2017 11:48:04.