N-Carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia

Journal of Inherited Metabolic Disease

Volumn 28, Issue 2, 2005, Pages 241-244

  Gebhardt, Boris ^a   Dittrich, S ^a   Parbel, S ^a   Vlaho, S ^a   Matsika, O ^a   Bohles, H ^a  

^a GOETHE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; CARBAMOYL PHOSPHATE SYNTHASE; CARBAMYLGLUTAMATE; CARNITINE; FUROSEMIDE; GLUTAMIC ACID DERIVATIVE; INSULIN; N ACETYLGLUTAMIC ACID; PROPIONYL COENZYME A; UNCLASSIFIED DRUG; UREA;

ACIDURIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DRUG MECHANISM; DRUG RESPONSE; DRUG SAFETY; ENZYME ACTIVITY; ENZYME INHIBITION; ENZYME SYNTHESIS; HUMAN; HYPERAMMONEMIA; LABORATORY TEST; MALE; METABOLIC ACIDOSIS; NEWBORN; TREATMENT OUTCOME; UREA CYCLE;

GLUTAMATES; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; METABOLISM, INBORN ERRORS; PROPIONIC ACIDS; SEVERITY OF ILLNESS INDEX;

EID: 19444367885     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-5260-7     Document Type: Article

References (10)

1. Bachmann C (2003) Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation. Eur J Pediatr 162: 410-416.
2. Bachmann C, Krähenbühl S, Colombo JP (1981) N-Acetylglutamate synthetase deficiency: A disorder of ammonia detoxification. N Engl J Med 304: 543.
3. Bachman C, Colombo JP, Jaggi K (1982) N-Acetylglutamate synthetase (NAGS) deficiency: Diagnosis, clinical observation and treatment. Adv Exp Med Biol 153: 313-319.
4. Goude FX, Sweetman L, Nyhan W (1979) Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methymalonic acidemia. J Clin Invest 64: 1544-1551.
5. Gebhardt B, Vlaho S, Fischer D, Sewell A, Boehles H (2003) N-Carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol Genet Metab 79: 303-304.
6. Lehnert W, Sperl W, Surmorla T, Baumgartner ER (1994) Propionic academia: Clinical, biochemical and therapeutic aspects. Eur J Pediatr 153 (supplement 1): S68-S80.
7. Okun JG, Horster F, Farkas LM, et al (2002) Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting exitotoxicity. J Biol Chem 277: 14674-14680.
8. Picca S, Dionisi-Vici C, Abeni D, et al (2001) Extracorporeal dialysis in neonatal hyperammonemia: Modalities and prognostic indicators. Pediatr Nephrol 16: 862-867.
9. Schaefer F, Straube E, Oh J, et al (1999) Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant 14: 910-918.
10. Zschocke J, Hoffmann G (1999) Disorders of ammonia detoxification. In Zschocke J, Hoffmann G, eds. Vademecum Metabolicum - Manual of Metabolic Peadiatrics. Stuttgart: Schattauer, 46-50.