Biopterin in the CSF was borderline increased together with a low normal dihydropteridine reductase activity in blood (Dr.
Blau (University Children s Hospital Zurich, Clinical Chemistry and Biochemistry, Zurich, Switzerland) for pterin measurements in CSF and measurement of the dihydropteridine reductase activity, Dr.
Phenylketonuria due to a deficiency of dihydropteridine reductase.
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.
Molecular basis of dihydropteridine reductase deficiency.
The diseases identified to date include: tyrosine hydroxylase deficiency (TH deficiency); aromatic L-amino acid decarboxylase deficiency (ALADD or AADC); GTP-1 cyclohydrolase deficiency (dopa-responsive dystonia); dihydropteridine reductase
deficiency (DHPR); and succinic semialdehyde dehydrogenase deficiency (SSADH).
The determination of pterins, biogenic amine metabolites and aromatic amino acids in cerebrospinal fluid using isocratic reverse phase liquid chromatography with in series dual cell coulometric electrochemical and fluorescence detection: use in the study of inborn errors of dihydropteridine reductase and 5,10-methylenetetrahydrofolatye reductase.
After its oxidation in the 2 hydroxylase reactions, it is reduced back to the active form by the action of pterin-4[alpha]-carbinolamine dehydratase and dihydropteridine reductase (Fig.