N-Acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication

European Journal of Pediatrics

Volumn 150, Issue 5, 1991, Pages 353-356

  Schubiger, G ^a   Bachmann, C ^b   Barben, P ^a   Colombo, J P ^c   Tonz O ^a   Schupbach D ^d  

^a CHILDREN S HOSPITAL   (Switzerland)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c UNIVERSITY OF BERN   (Switzerland)

^d Pathologische Institut am Kantonsspital Luzern   (Switzerland)

Author keywords

Hyperammonaemia; N Acetylglutamate synthetase deficiency; Treatment; Urea cycle

Indexed keywords

ARGININE; CARGLUMIC ACID; CITRULLINE; GLUTAMATE ACETYLTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; COMA; COMPLICATION; DIET; ENZYME DEFICIENCY; FATALITY; FOLLOW UP; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; INFANT; MALE; MENTAL DEFICIENCY; NEWBORN; ORAL DRUG ADMINISTRATION; PRIORITY JOURNAL; PROTEIN RESTRICTION; SEIZURE;

ACETYLTRANSFERASES; AMMONIA; CASE REPORT; CHILD; DEFICIENCY DISEASES; FOLLOW-UP STUDIES; HUMAN; INFANT, NEWBORN; MALE;

EID: 0025976652     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/BF01955939     Document Type: Article

References (12)

1. Treatment of congenital hyperammonaemias
2. Diagnosis of urea cycle disorders
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4. N-Acetylglutamate synthetase deficiency: diagnosis, clinical observations and treatment
5. N-Acetylglutamate syntethase deficiency, a second patient
6. Treatment of inborn errors of urea synthesis, Activation of alternative pathways of waste nitrogen synthesis and excretion
7. Treatment of hepatocerebral intoxication
8. New pathways of nitrogen excretion in inborn errors of urea synthesis
9. N-Acetylglutamate synthetase: enzyme assay in human liver
10. Ammonia intoxication in rats: protection by l-carbamylglutamate plus l-arginine
11. Acute and chronic effects of carbamyl glutamate on blood urea and ammonia
12. Liver pathology in a new congenital disorder of urea synthesis: N-Acetylglutamate synthetase deficiency