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By C. R. Scriver (auth.), G. M. Addison, K. Bartlett, R. A. Harkness, R. J. Pollitt (eds.)

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Extra info for Inherited Disorders of Vitamins and Cofactors: Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984

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The enzymatic synthesis of sepiapterin by chicken kidney preparations. J. Bioi. Chern. 256 (1981) 2963-2972 Wachter, H. el al. , Pfleiderer. W. and Wachter, H. ) Biochemical and Clinical Aspects of Pteridines, Vol. 2, De Gruyter, Berlin, 1983 J. Inher. Metab. Dis. 8 Suppl. 1 (1985) 34-38 Differential Diagnosis of Tetrahydrobiopterin Deficiency A. NIEDERWIESER 1 , A. -Cu. CURTIUS 1 1 Department of Pediatrics, University of Zurich, Switzerland 2Department of Pediatrics, University of Torino, Italy Six hundred and seventy-three children (483 newborns and 190 older selected children) were screened for tetrahydrobiopterin (BH4) deficiency by HPLC of urine pterins and BH4 load test.

In the presence of crude liver extracts the conversion of NH zP 3 to BH4 requires NADPH. Two deuterium atoms were incorporated from (4S-ZH)NADHP in the I' and 2' position of the BH4 side chain. Incorporation of one hydrogen from the solvent was found at position C(6). These results are consistent with the occurrence of an intramolecular redox exchange between the pteridine nucleus and the side chain and formation of6-pyruvoyl-5,6,7,8-tetrahydropterin(tetrahydro-l'-2'dioxopterin) as intermediate.

Kaufman, S. and Milstien, S. Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro. , Lutz, P. and Bickel, H. Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia. Pediatr. Res. 9 (1975) 899-903 Brenneman, A. R. and Kaufman, S. The role of tetrahydropteridines in the enzymatic conversion of tyrosine to 3,4-dihydroxyphenylalanine. Biochem. Biophys. Res. Commun. 17 (1964) 177-183 Brewster, T.

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