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Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: Loading tests with pterin derivatives

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Journal of Inherited Metabolic Disease

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References

  • Blaskovics M, Giudici TA (1988) A new variant of biopterin deficiency.N Engl J Med 319: 1611–1612.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • Curtius HCh, Matasovic A, Schoedon G et al (1990b) 7-Substituted pterins. A new class of mammalian pteridines.J Biol Chem 265: 3923–3930.

    PubMed  CAS  Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

  • Fukushima T, Nixon JC (1980) Analysis of reduced forms of biopterin in biological tissue and fluids.Anal Biochem 102: 176–188.

    Article  PubMed  CAS  Google Scholar 

  • 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.

    Google Scholar 

  • 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.

    Article  PubMed  CAS  Google Scholar 

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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

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