References
Blaskovics M, Giudici TA (1988) A new variant of biopterin deficiency.N Engl J Med 319: 1611–1612.
Blau N, Dhondt J-L, Kuster Th, Curtius HCh (1988) New variant of hyperphenylalaninemia with excretion of 7-substituted pterins.Eur J Pediatr 148: 176.
Blau N, Curtius HCh, Kuster Th et al (1989) Primapterinuria: a new variant of atypical phenylketonuria.J Inher Metab Dis 12 (suppl 2): 335–338.
Curtius HCh, Kuster Th, Matasovic A, Blau N, Dhondt J-L (1988) Primapterin, anapterin and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia.Biochem Biophys Res Commun 153: 715–721.
Curtius HCh, Adler C, Rebrin I, Heizmann C, Ghisla S (1990a) 7-Substituted pterins: Formation during phenylalanine hydroxylation in the absence of dehydratase.Biochem Biophys Res Commun 172: 1060–1066.
Curtius HCh, Matasovic A, Schoedon G et al (1990b) 7-Substituted pterins. A new class of mammalian pteridines.J Biol Chem 265: 3923–3930.
Davis DM, Kaufman S, Milstien S (1991) Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.Proc Natl Acad Sci 88: 385–389.
Dhondt J-L, Forzy G, Hayte JM et al (1987) Impaired biopterin synthesis in a patient with mild hyperphenylalaninemia. A new variant? In Curtius HCh, Blau N, Levin RA, eds.Unconjugated Pterins and Related Biogenic Amines. Berlin: de Gruyter, 257–263.
Dhondt J-L, Guibaud P, Rolland MO et al (1988) Neonatal hyperphenylalaninemia caused by a new variant of biopterin synthetase deficiency.Eur J Pediatr 147, 153–157.
Fukushima T, Nixon JC (1980) Analysis of reduced forms of biopterin in biological tissue and fluids.Anal Biochem 102: 176–188.
Giudici TA, Blaskovics M, Lim B, Gambetta R, Curtius HCh, Blau N (1991) Excretion of 7-substituted pterins by a hyperphenylalaninemic variant (primapterinuria). Administration of tetrahydrobiopterin and sepiapterin. In Blau N, Curtius HCh, Levine RA, Cotton RGH, eds.Pterins and Biogenic Amines in Neurology, Pediatrics and Immunology, Grosse Pointe: Lakeshore Publishing Co., 149–164.
Niederwieser A, Staudenmann W, Wetzel E (1984) High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins.J Chromatogr 290: 237–246.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Blau, N., Kierat, L., Curtius, H.C. et al. Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: Loading tests with pterin derivatives. J Inherit Metab Dis 15, 409–412 (1992). https://doi.org/10.1007/BF02435990
Issue Date:
DOI: https://doi.org/10.1007/BF02435990