N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria

Molecular Genetics and Metabolism

Volumn 79, Issue 4, 2003, Pages 303-304

  Gebhardt, Boris ^a   Vlaho, Stefan ^a   Fischer, Doris ^a   Sewell, Adrian ^a   Böhles, Hansjosef ^a  

^a GOETHE UNIVERSITY   (Germany)

Author keywords

Carbamyglutamate; Hyperammonaemia; Methylmalonic aciduria (MMA)

Indexed keywords

AMMONIA; ARGININE; BENZOIC ACID; CARBAMATE KINASE; CARNITINE; GLUCOSE; GLUTAMIC ACID DERIVATIVE; INSULIN; N CARBAMYLGLUTAMATE; PROPIONYL COENZYME A; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; COMPARATIVE STUDY; DETOXIFICATION; DRUG ANTAGONISM; DRUG MECHANISM; EXPERIMENTAL TEST; HUMAN; HYPERAMMONEMIA; MALE; METHYLMALONIC ACIDURIA; PERITONEAL DIALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT OUTCOME;

EID: 0041888299     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00095-7     Document Type: Article

References (4)

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2. Bachmann C., Krähenbühl S., Colombo J.P. N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxification. N. Engl. J. Med. 304:1981;543.
3. Bachman C., Colombo J.P., Jaggi K. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observation and treatment. Abv. Exp. Med. Biol. 153:1982;313-319.
4. Okun J.G., Horster F., Farkas L.M., Feyh P., Hinz A., Sauer S., Hoffamnn G.F., Unsicker K., Mayatepek E., Kolker S. Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarbolic acid cycle, and synergistically acting exitotoxicity. J. Biol. Chem. 277:2002;14674-14680.