title: Late-onset form of partial N-acetylglutamate synthetase deficiency.
abstract: A 13-month-old female presented with neurological deterioration of 1 month duration and hyperammonaemia. N-acetylglutamate synthetase activity in the liver was reduced to 33% of the control. A male cousin and a female sister had died following a similar clinical course. This is the first report of late-onset N-acetylglutamate synthetase deficiency. An autosomal-recessive mode of inheritance is suggested.
authors.affiliation: Department of Paediatrics, Bikur-Cholim Hospital, Jerusalem, Israel.
authors.forename: O N
authors.initials: ON
authors.lastname: Elpeleg
authors.forename: J P
authors.initials: JP
authors.lastname: Colombo
authors.forename: N
authors.initials: N
authors.lastname: Amir
authors.forename: C
authors.initials: C
authors.lastname: Bachmann
authors.forename: H
authors.initials: H
authors.lastname: Hurvitz
mesh_terms: D000123:Acetyltransferases / Q000172:deficiency*; D000367:Age Factors; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D000596:Amino Acids / Q000032:analysis; D051046:Amino-Acid N-Acetyltransferase; D000641:Ammonia / Q000097:blood*; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology
chemical_list: D000596:Amino Acids; D000641:Ammonia; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human