Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Carrier detection in ornithine transcarbamylase deficiency.

Literature DB >> 6820412

Carrier detection in ornithine transcarbamylase deficiency.

E A Haan, D M Danks, A Grimes, N J Hoogenraad.

Abstract

We have studied six known heterozygotes for ornithine transcarbamylase (McKusick 31125; OTC) deficiency. All had abnormal results when tested by measurement of urine orotic acid after protein loading. Duodenal mucosa OTC assay detected fewer of the known heterozygotes but was a useful supplementary test. Urine orotic acid excretion after protein loading is influenced by age and results from women being tested must be compared with those from controls of appropriate age.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 1982 PMID： 6820412 DOI： 10.1007/bf01799752

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

18 in total

1. Some kinetic properites of liver ornithine carbamoyl transferase (OCT) in a patient with OCT deficiency.

Authors: C van der Heiden; J Desplanque; H D Bakker
Journal: Clin Chim Acta Date: 1977-11-01 Impact factor: 3.786

2. Biochemical investigations of hyperammonaemia.

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

3. Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.

Authors: L Cathelineau; J M Saudubray; C Polonovski
Journal: Enzyme Date: 1974

4. Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.

Authors: E M Short; H O Conn; P J Snodgrass; A G Campbell; L E Rosenberg
Journal: N Engl J Med Date: 1973-01-04 Impact factor: 91.245

5. Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.

Authors: A G Campbell; L E Rosenberg; P J Snodgrass; C T Nuzum
Journal: N Engl J Med Date: 1973-01-04 Impact factor: 91.245

6. Orotic acid in food milk powders.

Authors: P O Okonkwo; J E Kinsella
Journal: Am J Clin Nutr Date: 1969-05 Impact factor: 7.045

7. Carrier detection in ornithine transcarbamylase deficiency.

Authors: J T Hokanson; W E O'Brien; J Idemoto; I A Schafer
Journal: J Pediatr Date: 1978-07 Impact factor: 4.406

8. Abnormalities of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of patients with Reye's syndrome.

Authors: F Sinatra; T Yoshida; M Applebaum; N J Masion Hoogenraad; P Sunshine
Journal: Pediatr Res Date: 1975-11 Impact factor: 3.756

9. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.

Authors: M L Batshaw; Y Roan; A L Jung; L A Rosenberg; S W Brusilow
Journal: N Engl J Med Date: 1980-02-28 Impact factor: 91.245

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

7 in total

1. Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium.

Authors: E D Goldstein; R Cannistraro; P S Atwal; J F Meschia
Journal: Neurohospitalist Date: 2017-09-12

2. DNA analysis of ornithine transcarbamylase deficiency.

Authors: U Wendel; E Wilichowski; J Schmidtke; C Bachmann
Journal: Eur J Pediatr Date: 1988-05 Impact factor: 3.183

3. Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.

Authors: M Potter; J W Hammond; K G Sim; A K Green; B Wilcken
Journal: J Inherit Metab Dis Date: 2001-02 Impact factor: 4.982