Late-onset form of partial N-acetylglutamate synthetase deficiency.
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.
Elpeleg
O N
ON
Department of Paediatrics, Bikur-Cholim Hospital, Jerusalem, Israel.
Colombo
J P
JP
Amir
N
N
Bachmann
C
C
Hurvitz
H
H
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
D000596:Amino Acids; D000641:Ammonia; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human