N-Carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Jones, S ^a   Reed, C A B ^a   Vijay, S ^b   Walter, J H ^a   Morris, A A M ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b BRADFORD ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; BIOLOGICAL MARKER; GLUTAMIC ACID DERIVATIVE; N CARBAMYLGLUTAMATE; N-CARBAMYLGLUTAMATE;

ARTICLE; BLOOD; CASE REPORT; DIGESTIVE TRACT INTUBATION; FEMALE; HUMAN; HYPERAMMONEMIA; MALE; NEWBORN; PROPIONIC ACIDEMIA; TIME; TREATMENT OUTCOME;

AMMONIA; BIOLOGICAL MARKERS; FEMALE; GLUTAMATES; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; INTUBATION, GASTROINTESTINAL; MALE; PROPIONIC ACIDEMIA; TIME FACTORS; TREATMENT OUTCOME;

EID: 84855590063     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0777-1     Document Type: Article

References (7)

1. Bachmann C, Colombo JP, Jaggi K (1982) N-Acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment. Adv Exp Med Biol 153:39-45.
2. Coude FX, Sweetman L, Nyhan WL (1979) Inhibition by propionyl-coenzyme A of N-Acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. J Clin Invest 64:1544-1551.
3. Gebhardt B, Vlaho S, Fischer D, Sewell A, Bohles H (2003) N-Carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol Genet Metab 79:303-304.
4. Gebhardt B, Dittrich S, Parbel S, Vlaho S, Matsika O, Bohles H (2005) N-Carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 28:241-244.
5. Saunders M, Sweetman L, Robinson B, Roth K, Cohn R, Gravel RA (1979) Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. J Clin Invest 64:1695-1702.
6. Valayannopoulos V, Mention K, Guyot V et al (2005) Experience with carbamylglutamate treatment for neonatal hyperammonaemia. [Abstract]. J Inherit Metab Dis 28:81.
7. Vianey-Saban C, Acquaviva-Bourdain C, Levrat V, et al (2007) Role of N-carbamylglutamate in undiagnosed neonatal hyperammonaemia. In: Bachmann C, Haberle J, Leonard J, eds. Pathophysiology and Management of Hyperammonaemia. Heilbronn: SPS Verlagsgesellschaft, 114-128.