Literature DB >> 6785520

Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency.

D R Webster, H A Simmonds, D M Barry, D M Becroft.   

Abstract

Detailed biochemical studies have been carried out in a female heterozygote for ornithine carbamoyl-transferase (OCT) deficiency. Increased levels of the pyrimidines, orotic acid, uridine and uracil, were observed in plasma as well as urine by utilizing an adaptation of high performance liquid chromatography (HPLC). Urinary clearances of these compounds were high, that of orotic acid indicating net secretion. Urinary uric acid clearance was also elevated, a finding attributed to the uricosuric effect of the orotic acid excreted concomitantly. The results in this child and her family are typical of OCT deficiency. They confirm considerable genetic heterogeneity in the biochemical as well as clinical expression in this defect.

Entities:  

Mesh：

Substances：

Year:  1981        PMID： 6785520     DOI： 10.1007/BF02263578

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  13 in total

1.  Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.

Authors:  A H van Gennip; J Grift; P K de Bree; B J Zegers; J W Stoop; S K Wadman
Journal:  Clin Chim Acta       Date:  1979-05-02       Impact factor: 3.786

2.  THE RENAL EXCRETION OF OXYPURINES.

Authors:  S GOLDFINGER; J R KLINENBERG; J E SEEGMILLER
Journal:  J Clin Invest       Date:  1965-04       Impact factor: 14.808

3.  Heritable urea cycle enzyme deficiency-liver disease in 16 patients.

Authors:  D R LaBrecque; P S Latham; C A Riely; Y E Hsia; G Klatskin
Journal:  J Pediatr       Date:  1979-04       Impact factor: 4.406

4.  Massive pulmonary hemorrhage as a presenting feature in congenital hyperammonemia.

Authors:  L J Sheffield; D M Danks; J W Hammond; N J Hoogenraad
Journal:  J Pediatr       Date:  1976-03       Impact factor: 4.406

5.  Proceedings: Case of hyperammonaemia due to ornithine transcarbamylase deficiency.

Authors:  C Morley; I B Sardharwalla
Journal:  Arch Dis Child       Date:  1974-09       Impact factor: 3.791

6.  Biochemical investigations of hyperammonaemia.

Authors:  B Levin; V G Oberholzer; L Sinclair
Journal:  Lancet       Date:  1969-07-26       Impact factor: 79.321

7.  Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.

Authors:  A S Goldstein; N J Hoogenraad; J D Johnson; K Fukanaga; E Swierczewski; H M Cann; P Sunshine
Journal:  Pediatr Res       Date:  1974-01       Impact factor: 3.756

8.  [Effect of allopurinol on arterial hyperammoniacemia in various hepatic deficiencies].

Authors:  C Pfister; P J Craan
Journal:  Rev Med Suisse Romande       Date:  1970-07

9.  The therapy of hyperammonemia due to ornithine transcarbamylase defiency in a male neonate.

Authors:  S E Snyderman; C Sansaricq; S V Phansalkar; R C Schacht; P M Norton
Journal:  Pediatrics       Date:  1975-07       Impact factor: 7.124

10.  Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.

Authors:  P MacLeod; S Mackenzie; C R Scriver
Journal:  Can Med Assoc J       Date:  1972-09-09       Impact factor: 8.262
View more
  4 in total

1.  Pregnancy in xanthinuria: demonstration of fetal uric acid production?

Authors:  H A Simmonds; J H Stutchbury; D R Webster; R E Spencer; R A Fisher; M Wooder; B M Buckley
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

2.  Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.

Authors:  D M Becroft; D M Barry; D R Webster; H A Simmonds
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  The effects of fetal energy depletion on amniotic fluid concentrations of amino acids, organic acids and related metabolites.

Authors:  R A Harkness; P Purkiss; S Duffy; R A Chalmers; M Jones
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.

Authors:  Lindsay C Burrage; Lillian Thistlethwaite; Bridget M Stroup; Qin Sun; Marcus J Miller; Sandesh C S Nagamani; William Craigen; Fernando Scaglia; V Reid Sutton; Brett Graham; Adam D Kennedy; Aleksandar Milosavljevic; Brendan H Lee; Sarah H Elsea
Journal:  Genet Med       Date:  2019-01-23       Impact factor: 8.822
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.