Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies

Biochemical and Molecular Medicine

Volumn 58, Issue 2, 1996, Pages 199-203

  Blau, N ^a   De Klerk, J B C ^b   Thony B ^a   Heizmann, C W ^a   Kierat, L ^a   Smeitink, J A M ^c   Duran, M ^c  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE; ISOXANTHOPTERIN; MOLYBDENUM; PTERIN; TETRAHYDROBIOPTERIN; XANTHINE; XANTHINE DEHYDROGENASE;

ARTICLE; CASE REPORT; CHILD; DIAGNOSTIC TEST; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; MALE; URINARY EXCRETION;

EID: 0030220524     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.0049     Document Type: Article

References (18)

1. 1. Simmonds HA, Reiter S, Nishino T. Hereditary xanthinuria. In The Metabolic and Molecular Bases of Inherited Disease (Scriver CR, Beaudet AL, Sly WS, Valle D, Eds). New York: McGraw-Hill, 1995, Vol 2, pp 1781-1797.
2. 2. Johnson JL, Wadman SK. Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. In The Metabolic and Molecular Bases of Inherited Disease. (Scriver CR, Beaudet AL, Sly WS, Valle D, Eds). New York: McGraw-Hill, 1995, Vol 2, pp 2271-2283.
3. 3. Higashino K, Yamamoto T, Hada T, Kono N, Kawachi M, Nanahoshi M, Takahashi S, Suda M, Naka M. Hereditary xanthine oxidase deficiency consisting of at least two subgroups. Adv Exp Med Biol 253A:87-91, 1989.
4. 4. Beemer FA, Duran M, Wadman SK, Cats BP. Absence of hepatic molybdenum cofactor. An inborn error of metabolism associated with lens dislocation. Ophthalm Paediatr Genet 5:191-195, 1985.
5. 5. Skovby F. Disorders of sulfur amino acids. In Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases (Blau N, Duran M, Blaskovics M, Eds.). London: Chapman and Hall, 1996, pp 187-200.
6. 6. Simmonds A. Purine and pyrimidine disorders. In Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases (Blau N, Duran M, Blaskovics M, Eds.). London: Chapman and Hall, 1996, pp 341-357.
7. 7. Mousson B, DesJacques P, Baltassat P. Measurement of xanthine oxidase activity in some human tissues. An optimized method. Enzyme 29:32-43, 1983.
8. 8. Kawachi M, Kono N, Mineo I, Yamada Y, Tarai S. Decreased xanthine oxidase activities and increased urinary oxypurines in heterozygotes for hereditary xanthinuria. Clin Chim Acta 188:137-146, 1990.
9. 9. Johnson JL, Wuebbens MM, Mandell R, Shih VE. Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor-deficient patients and preliminary characterization of a diffusible molybdopterin precursor. J Clin Invest 83:897-903, 1989.
10. 10. Curtius HC, Blau N, Kuster T. Pterins. In Techniques in Diagnostic Human Biochemical Genetics (Hommes FA, Ed.). New York: Wiley-Liss, 1991, pp 377-396.
11. 11. Van Acker K, Eyskens FJ, Verkerk RM, Scharpe SS. Urinary excretion of purine and pyrimidine metabolites in neonate. Pediatr Res 34:762-766, 1993.
12. 12. Duran M, de Bree PK, de Klerk JBC, Dorland L, Berger R. Molybdenum-cofactor deficiency: Clinical presentation and laboratory diagnosis. Int Pediatr, in press.
13. 13. Schuierer G, Kurlemann G, Bick U, Stephani U. Molybdenum cofactor deficiency: CT and MR findings. Neuropediatrics 26:51-54, 1995.
14. 14. Frayha RA, Salti IS, Araout RA, Katchadurian A, Uhtman SM. Hereditary xanthinuria, report on three patients and short review of the literature. Nephron 19:328-332, 1977.
15. 15. Johnson JL, Wuebbens MM, Mandell R, Shih VE. Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase. Biochem Med Metab Biol 40:86-93, 1988.
16. 16. Shih VE, Abroms IF, Johnson JL, Carney M, Mandell R, Robb RM, Cloherty JP, Rajagopalan KV. Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. N Engl J Med 197:1022-1028, 1977.
17. 17. Rembold H. Pteridine catabolism. In Biochemical and Clinical Aspects of Pteridines (Curtius HC, Pfleiderer W, Wachter H, Eds). Berlin: Walter de Gruyter, 1983, Vol 2, pp 107-122.
18. 18. Cameron JS, Moro F, Simmonds HA. Gout, uric acid and purine metabolism in paediatric nephrology. Pediatr Nephrol 7:105-18, 1993.