Title : Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers.

Pub. Date : 1988 Jan

PMID : 3276524






1 Functional Relationships(s)
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1 It is based on the PTS-catalysed formation of tetrahydrobiopterin from dihydroneopterin triphosphate in the presence of magnesium, sepiapterin reductase, NADPH, dihydropteridine reductase, and NADH, and fluorimetric measurement of the product as biopterin by high performance liquid chromatography (HPLC) after oxidation with iodine. NAD 6-pyruvoyltetrahydropterin synthase Homo sapiens