Literature DB >> 3428293

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

E Kerem1, D Branski, E Gross-Kieselstein, H Hurvitz, A Abrahamov, Y Pollack.   

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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Year:  1987        PMID： 3428293     DOI： 10.1007/BF02467362

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  9 in total

1.  Plaque production by the polyoma virus.

Authors:  R DULBECCO; G FREEMAN
Journal:  Virology       Date:  1959-07       Impact factor: 3.616

Review 2.  Molecular genetics of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

Authors:  J M Wilson; W N Kelley
Journal:  Arch Intern Med       Date:  1985-10

Review 3.  Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes.

Authors:  J M Wilson; A B Young; W N Kelley
Journal:  N Engl J Med       Date:  1983-10-13       Impact factor: 91.245

4.  Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  W B Lorentz; B K Burton; A Trillo; M C Browning
Journal:  J Pediatr       Date:  1984-01       Impact factor: 4.406

5.  Problems in diagnosis and treatment of adenine and hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  M J Dillon; H A Simmonds; T M Barratt; L D Fairbanks; P C Holland
Journal:  Adv Exp Med Biol       Date:  1984       Impact factor: 2.622

6.  A screening test for hyperuricosuria.

Authors:  F B Stapleton; D A Nash
Journal:  J Pediatr       Date:  1983-01       Impact factor: 4.406

7.  Immunological observations on patients with Lesch-Nyhan syndrome, and on the role of de-novo purine synthesis in lymphocyte transformation.

Authors:  A C Allison; T Hovi; R W Watts; A D Webster
Journal:  Lancet       Date:  1975-12-13       Impact factor: 79.321

8.  Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.

Authors:  P C Holland; M J Dillon; J Pincott; H A Simmonds; T M Barratt
Journal:  Arch Dis Child       Date:  1983-10       Impact factor: 3.791

9.  Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Authors:  A M Wingen; W Löffler; R Waldherr; K Schärer
Journal:  Proc Eur Dial Transplant Assoc Eur Ren Assoc       Date:  1985
  9 in total
  2 in total

1.  Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant.

Authors:  Rashi Singal; Sriram Krishnamurthy; Parameswaran Narayanan; Nachiappa Ganesh Rajesh; Bharat Choudhary; Gabriella Jacomelli; Vanna Micheli
Journal:  Clin Exp Nephrol       Date:  2011-09-09       Impact factor: 2.801

2.  Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.

Authors:  Ivana Pela; Maria Alice Donati; Elena Procopio; Patrizio Fiorini
Journal:  Pediatr Nephrol       Date:  2007-08-16       Impact factor: 3.714
  2 in total

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