Literature DB >> 2612006

Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.

D Rabier1, A Benoit, F Petit, A Chekoury, J P Bonnefont, J M Saudubray, P Kamoun.   

Abstract

A new ornithine carbamoyltransferase variant is described with a nearly normal specific enzymatic activity. This new variant is characterized by a ten-fold increased Km value for L-ornithine (3.75 vs. 0.33 mmol/l in control) and by a normal Km value for carbamoylphosphate (0.42 vs. 0.29 mmol/l). Its pH optimum is shifted towards the alkaline side. This enzyme is highly unstable at 55 degrees C.

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Year:  1989        PMID： 2612006     DOI： 10.1016/0009-8981(89)90199-x

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  6 in total

1.  Statistical properties of the Michaelis-Menten equation and their implication for inborn errors of metabolism.

Authors:  J W Seakins; M Hjelm; K J Wang
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Ornithine carbamoyltransferase deficiency with subnormal enzyme activity.

Authors:  D Rabier; B Guillois; J Bardet; C Deprun; P Parvy; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase deficiency.

Authors:  G Kuchler; D Rabier; F Poggi-Travert; D Meyer-Gast; J Bardet; V Drouin; M Cadoudal; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

Authors:  D Rabier; C Diry; A Rotig; P Rustin; B Heron; J Bardet; P Parvy; G Ponsot; C Marsac; J M Saudubray; A Munnich; P Kamoun
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

5.  Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferase.

Authors:  N Seiler; C Grauffel; G Daune-Anglard; S Sarhan; B Knödgen
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

6.  A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.

Authors:  N Guffon; C Vianey-Saban; J Bourgeois; D Rabier; J P Colombo; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  6 in total

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