نتایج جستجو برای: propionic acidemia

تعداد نتایج: 4552  

2016
Emma Watson Viridiana Olin-Sandoval Michael J Hoy Chi-Hua Li Timo Louisse Victoria Yao Akihiro Mori Amy D Holdorf Olga G Troyanskaya Markus Ralser Albertha Jm Walhout

Metabolic network rewiring is the rerouting of metabolism through the use of alternate enzymes to adjust pathway flux and accomplish specific anabolic or catabolic objectives. Here, we report the first characterization of two parallel pathways for the breakdown of the short chain fatty acid propionate in Caenorhabditis elegans. Using genetic interaction mapping, gene co-expression analysis, pat...

Journal: :Orphanet Journal of Rare Diseases 2008
Virginie Levrat Isabelle Forest Alain Fouilhoux Cécile Acquaviva Christine Vianey-Saban Nathalie Guffon

BACKGROUND Hyperammonemia in patients with methylmalonic aciduria (MMA) and propionic aciduria (PA) is caused by accumulation of propionyl-CoA which decreases the synthesis of N-acetyl-glutamate, the natural activator of carbamyl phosphate synthetase 1. A treatment approach with carglumic acid, the structural analogue of N-acetyl-glutamate, has been proposed to decrease high ammonia levels enco...

Journal: :Clinical science 1999
M Wajner K D Santos J L Schlottfeldt M P Rocha C M Wannmacher

Recurrent infections are common features in patients affected by propionic acidaemia (McKusick 232000) and methylmalonic acidaemia (McKusick 251000). Since these disorders are biochemically characterized by tissue accumulation of propionic acid and methylmalonic acid respectively, it is possible that these compounds may act as immunosuppressants. We therefore investigated the effect of propiona...

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