and dihydropteridine reductase activity analysis should be routinely performed to rule out BH4 deficiency.
Cerebrospinal fluid concentrations of pterins and metabolites of serotonin and dopamine in a pediatric reference population.
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.
One-carbon units at various oxidation levels are attached at N-5 of the pterin moiety, N-10 of the pABA moiety, or bridged between the two.
Natural folates are all, to varying degrees, unstable, particularly to oxidative cleavage between the pterin and pABA moieties (Fig.
Our studies focus on the exact role BH4 using pterin
analogs that are substituted at positions that directly hydrogen bond to the heme in the active site.
In the present study, we used a similar stimulation procedure for measurement of both pterins and GTPCH activity.
Under these conditions, amniocytes appeared to produce rather low amounts of pterins, consistent with their low GTPCH activity (Table 1).
Duran (University Children s Hospital, Utrecht, The Netherlands) for measurements of the urinary pterins, and Dr.
Pterin concentrations in the urine were within the reference interval.
4] deficiencies include measurement of urinary pterins
or oral loading tests with [BH.
The Punch locus of Drosophila encodes GTP cyclohydrolase I, a multimeric enzyme that catalyzes the first step in pterin