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Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma
H B Verbiest1, J S Straver, J P Colombo
1Department of Neurology, Municipal Hospital Leyenburg, The Hague, The Netherlands.
Acta Neurologica Scandinavica
|September 1, 1992
Abstract:
Valproic acid induced coma is presented in an adult patient without a history of metabolic disease. Liver biopsy revealed a reduction in activity of carbamyl phosphate synthetase-I, an enzyme obligated for transformation of ammonia to urea in the urea cycle. After recovery CT scan follow-up showed marked cerebral atrophy which did not exist prior to the state of coma. Risk factors are discussed.