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Case Reports
. 1990 Jun;149(9):634-6.
doi: 10.1007/BF02034751.

Late-onset form of partial N-acetylglutamate synthetase deficiency

O N Elpeleg  1 , J P Colombo, N Amir, C Bachmann, H Hurvitz
Affiliations
Case Reports

Late-onset form of partial N-acetylglutamate synthetase deficiency

O N Elpeleg et al. Eur J Pediatr. 1990 Jun.

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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