Inborn errors of purine and pyrimidine metabolism

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

Volumn , Issue , 2006, Pages 245-253

  Van Gennip, Albert H ^a   Bierau, Jörgen ^a   Nyhan, William L ^b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 64449086169     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/3-540-28962-3_25     Document Type: Chapter

References (15)

1. Bax BE, Bain MD, Fairbanks LD, Simmonds HA, Webster AD, Chalmers RA (2000) Carrier erythrocyte entrapped adenosine deaminase therapy in adenosine deaminase deficiency. Adv Exp Med Biol 486:47-50
2. Bruyland M, Ebinger G (1994) Beneficial effect of a treatment with xylitol in a patient with myoadenylate deaminase deficiency. Clin Neuropharmacol 17(5):492-493
3. Classen CF, Schulz AS, Sigl-Kraetzig M, Hoffmann GF, Simmonds HA, Fairbanks LD, Debatin KM, FriedrichW(2001) Successful HLA-identical bone marrowtransplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning. Bone Marrow Transplant 28(1):93-96
4. Dvilansky A, Hezkelson L, Wolfson M, Nathan I, Bashan N, Meyerstein N (1984) Haemolytic anaemia due to pyrimidine-5'-nucleotidase deficiency. Int J Tissue React 6(4):351-354
5. Hershfield MS, Arrendondo-Vega FX, Sebastian I (1997) Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency. J Inherit Metab Dis 20:179-185
6. Johnson JL, Duran M (2001) Molybdenum cofactor deficiency and sulfite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inhereted disease, 8th edn, Vol II. McGraw-Hill, New York, pp 3163-3177
7. Muul LM, Tuschong LM, Soenen SL, Jagadeesh GJ, Ramsey WJ, Long Z, Carter CS, Garabedian EK, Alleyne M, Brown M, Bernstein W, Schurman SH, Fleisher TA, Leitman SF, Dunbar CE, Blaese RM, Candotti F (2003) Persistance and expression of the adenosine deaminase gene for 12 years and immune reaction to gene transfer components: long-term results of the first clinical gene therapy trial. Blood 101(7):2563-2569
8. Sahota AS, Tischfield JA, Kamatani N, Simmonds HA (2001) Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxylithiasis. In: Scriver CR, AL Beaudet, WS Sly, and D Valle, eds The metabolic and molecular bases of inhereted disease, 8th edn, Vol II. McGraw-Hill, New York, pp 2571-2584
9. Salerno C, D'Eufemia P, Finocchiaro R, Celli M, Spalice A, Iannetti P, Crifo C, Giardini O (1999) Effect of d-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency. Biochim Biophys Acta 1453(1):135-140
10. Simmonds HA, Gennip AH van (1996) Purine and pyrimidine disorders. In: Blau N, Duran M, Blaskovic ME, Gibson KM (eds) Physician's guide to the laboratory diagnosis of metabolic diseases, 2nd edn. Springer, Berlin, pp 445-466
11. TairaT,KobayashiT,HoriT(2003) Disappearance of self-mutilating behavior in a patient with Lesch-Nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report. J Neurosurg 98:414-416
12. Van den Berghe, G, Vincent M-F, Marie S (2000) Disorders of purine and pyrimidine metabolism. In: Fernandes J, Saudubray J-M, Van den Berghe G (eds) Inborn metabolic diseases, 3rd edn. Springer, Berlin, pp 356-368
13. VanKuilenburgABP,DeAbreuRA,GennipAHvan(2003a) Pharmacogeneticandclinical aspects of dihydropyrimidine dehydrogenase deficiency. Ann Clin Biochem 40(1):41-45
14. Van Kuilenburg ABP, Meinsma R, Zonnenberg BA, Zoetekouw L, Baas F, Matsuda K, Tamaki N, Gennip AH van (2003b) Dihydropyrimidinase deficiency and severe 5-fluorouracil toxicity. Clin Cancer Res 9(12):4363-4367
15. Zöllner N, Reiter S, Gross M, Pongratz D, Reimers CD, Gerbitz K, Paetzke I, Deuffel T, Hubner G (1986) Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral adminsitration of ribose. KlinWochenschr 64(24):1281-1290