Literature DB >> 6639135

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

P C Holland, M J Dillon, J Pincott, H A Simmonds, T M Barratt.   

Abstract

A month old infant had gout and renal failure caused by hypoxanthine guanine phosphoribosyl transferase (HGPRTase) deficiency. Investigations showed a high uric acid value, crystal nephropathy on ultrasound, and uric acid deposition on renal biopsy. The HGPRTase value was low in red cells and fibroblasts.

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Year:  1983        PMID： 6639135      PMCID： PMC1628265          DOI： 10.1136/adc.58.10.831

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  5 in total

1.  A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

Authors:  M LESCH; W L NYHAN
Journal:  Am J Med       Date:  1964-04       Impact factor: 4.965

2.  The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  B T Emmerson; L Thompson
Journal:  Q J Med       Date:  1973-04

3.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Authors:  J E Seegmiller; F M Rosenbloom; W N Kelley
Journal:  Science       Date:  1967-03-31       Impact factor: 47.728

Review 4.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  C H de Bruyn
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

5.  Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.

Authors:  J Dancis; L C Yip; R P Cox; S Piomelli; M E Balis
Journal:  J Clin Invest       Date:  1973-08       Impact factor: 14.808
  5 in total
  8 in total

1.  Clinical quiz. Elevated urinary uric acid excretion (UUAE).

Authors:  M J Schoeneman
Journal:  Pediatr Nephrol       Date:  1990-03       Impact factor: 3.714

2.  Clinical quiz. Lesch-Nyhan syndrome.

Authors:  M M Bhagat; C J Reid
Journal:  Pediatr Nephrol       Date:  1991-11       Impact factor: 3.714

Review 3.  Urolithiasis in children: current medical management.

Authors:  J Laufer; H Boichis
Journal:  Pediatr Nephrol       Date:  1989-07       Impact factor: 3.714

4.  Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.

Authors:  Yasushi Ishida; Asako Ishimaru; Hisamichi Tauchi; Akiko Yamaguchi; Masayoshi Yokoyama; Kazuhiro Hiroi; Nobuaki Wakamatsu; Yasukazu Yamada
Journal:  Eur J Pediatr       Date:  2007-09-21       Impact factor: 3.183

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

Authors:  E Kerem; D Branski; E Gross-Kieselstein; H Hurvitz; A Abrahamov; Y Pollack
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

6.  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

7.  Purine enzyme defects as a cause of acute renal failure in childhood.

Authors:  H A Simmonds; J S Cameron; T M Barratt; M J Dillon; S R Meadow; R S Trompeter
Journal:  Pediatr Nephrol       Date:  1989-10       Impact factor: 3.714

8.  Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.

Authors:  Hubert Wong; Janusz Feber; Pranesh Chakraborty; Alfred Drukker; Guido Filler
Journal:  Pediatr Nephrol       Date:  2007-10-13       Impact factor: 3.714
  8 in total

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