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.
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Abbreviations
- CP:
-
carbamoylphosphate
- CPS:
-
carbamoylphosphate synthetase
- NAG:
-
N-acetylglutamate
- NAGS:
-
N-acetylglutamate synthethase
- OTC:
-
ornithine transcarbamoylase
References
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Elpeleg, O.N., Colombo, J.P., Amir, N. et al. Late-onset form of partial N-acetylglutamate synthetase deficiency. Eur J Pediatr 149, 634–636 (1990). https://doi.org/10.1007/BF02034751
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DOI: https://doi.org/10.1007/BF02034751