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Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy

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Abstract

A 6-month-old infant presented with failure to thrive, hyperuricaemia and renal insufficiency. The hyperuricaemia was due to uric acid over-production. The level of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity was found to be normal. However, a two-fold increase in the Km of the enzyme to hypoxanthine as well as in the Vmax values was observed. It seems therefore, that in cases of uric acid over-production, screening tests of HGPRT activity may be insufficient and additional kinetic properties of the enzyme should be tested.

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Abbreviations

HGPRT:

hypoxanthine-guanine phosphoribosyl transferase

APRT:

adenine phosphoribosyl transferase

FTT:

failure to thrive

References

  1. Allison AC, Watts RWE, Hovi T, Webster ADB (1975) Immunological observations on patients with Lesch-Nyhan syndrome and on the role of the novo purine synthesis in lymphocyte transformation Lancet II:1179–1182

    Article  Google Scholar 

  2. Dillon MJ, Simmonds HA, Barratt TM, Fairbanks LD, Holland PC (1984) Problems in diagnosis and treatment of adenine and hypoxanthine guanine phosphoribosyl transferase deficiency. Adv Exp Med Biol 165A:1–6

    Google Scholar 

  3. Dulbecco R, Freeman G (1959) Plaque production by the polyoma virus. Virology 8:396–397

    Article  PubMed  CAS  Google Scholar 

  4. Holland PC, Dillon MS, Pincott J, Simmonds HA, Barrat TM (1983) Hypoxanthine-guanine phosphoribosyltransferase deficiency presenting with gout and renal failure in infancy. Arch Dis Child 58:831–833

    Article  PubMed  CAS  Google Scholar 

  5. Kelley WN, Wyngarden JD (1983) Clinical syndromes associated with hypoxanthine guanine phosphoribosyltransferase deficiency. In: Stanbury JB, Wyngarden JD, Frederickson DS, Goldstein JL. Brown MS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 1115–1143

    Google Scholar 

  6. Lorentz WB, Burton BK, Trillo A, Browning MC (1984) Failure to thrive: hyperuricemia and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl-transferase deficiency. J Pediatr 104:94–97

    PubMed  Google Scholar 

  7. Stapleton FB, Nash DA (1983) A screening test for hyperuricosuria. J Pediatr 102:88–90

    Article  PubMed  CAS  Google Scholar 

  8. Wilson JM, Young AB, Kelley WN (1983) Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes. N Engl J Med 309:900–910

    Article  PubMed  CAS  Google Scholar 

  9. Wilson JM, Kelley WN (1985) Molecular genetics of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. Arch Intern Med 145:1895–1900

    Article  PubMed  CAS  Google Scholar 

  10. Wingen AM (1985) Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. Proc EDTA-ERA 21:751–755.

    CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, Bikur Cholim General Hospital, P. O. Box 492, 91002, Jerusalem, Israel

    E. Kerem, D. Branski, E. Gross-Kieselstein, H. Hurvitz & A. Abrahamov

  2. Department of Microbiology and Immunology, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel

    Y. Pollack

Authors
  1. E. Kerem
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  2. D. Branski
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  3. E. Gross-Kieselstein
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  4. H. Hurvitz
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  5. A. Abrahamov
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  6. Y. Pollack
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Kerem, E., Branski, D., Gross-Kieselstein, E. et al. Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy. Eur J Pediatr 146, 595–597 (1987). https://doi.org/10.1007/BF02467362

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  • DOI: https://doi.org/10.1007/BF02467362

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