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N ‐Carbamylglutamate protects patients with decompensated propionicaciduria from hyperammonaemia
Author(s) -
Gebhardt B.,
Dittrich S.,
Parbel S.,
Vlaho S.,
Matsika O.,
Bohles H.
Publication year - 2005
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-005-5260-7
Subject(s) - hyperammonemia , detoxification (alternative medicine) , urea cycle , metabolite , medicine , glutamate dehydrogenase , citrullinemia , endocrinology , chemistry , glutamate receptor , pharmacology , biochemistry , amino acid , alternative medicine , receptor , pathology , arginine
Summary In patients with propionic aciduria, the accumulating metabolite propionyl‐CoA causes a disturbance of the urea cycle via the inhibition of N ‐acetylglutamate synthesis. Lack of this allosteric activator results in an inhibition of carbamoylphosphate synthase (CPS). This finally leads to hyperammonaemia. In two patients with decompensated propionic aciduria the CPS activator carbamylglutamate was tested for its ability to antagonize the propionyl‐CoA associated hyperammonaemia. Oral carbamyl glutamate administration resulted in a significant increase in ammonia detoxification and could avoid further dialysis therapy. Safe, fast and easy to administer, carbamyl glutamate improves the acute therapy of decompensated propionic aciduria by increasing ammonia detoxification and avoiding hyperammonaemia.