N-acetylglutamate synthetase deficiency: Favourable experience with carbamylglutamate

Journal of Inherited Metabolic Disease

Volumn 21, Issue 8, 1998, Pages 867-868

  Morris, A A M ^a   Richmond, S W J ^b   Oddie, S J ^b   Pourfarzam, M ^a   Worthington, V ^c   Leonard, J V ^c  

^a ROYAL VICTORIA INFIRMARY   (United Kingdom)

^b SUNDERLAND ROYAL HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BENZOIC ACID; CARNITINE; GLUTAMATE ACETYLTRANSFERASE; GLUTAMIC ACID DERIVATIVE; N ACETYLGLUTAMIC ACID; N CARBAMYLGLUTAMATE; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FEMALE; HUMAN; HYPERAMMONEMIA; INFANT; NEWBORN; ORAL DRUG ADMINISTRATION; PRESCHOOL CHILD; PROTEIN RESTRICTION; UREA CYCLE;

EID: 0031739321     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005478904186     Document Type: Article

References (4)

1. Guffon N, Vianey-Saban C, Bourgeois J, Rabier D, Colombo JP, Guibaud P (1995) A new neonatal case of N-acetylglutamate synthetase deficiency treated by carbamylglutamate. J Inher Metab Dis 18: 61-65.
2. Hinnie J, Colombo J, Wermuth B, Dryburgh F (1997) N-Acetylglutamate synthetase deficiency responding to carbamylglutamate. J Inher Metab Dis 20: 839-840.
3. Nuzum CT, Snodgrass PJ (1976) Multiple assays of the 5 urea cycle enzymes in human liver homogenates. In Grisolia S, Mayor F and Baguena RB, eds. The Urea Cycle. New York: Wiley, 325-349.
4. Yamada E, Wakabayashi Y (1991) Development of pyrroline-5-carboxylate synthase and N-acetylglutamate synthetase and their changes in lactation and aging. Arch Biochem Biophys 291: 15-23.