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Carbamyl phosphate synthetase‐l deficiency discovered after valproic acid‐induced coma
Author(s) -
Verbiest H. B. C.,
Straver J. S.,
Colombo J. P.,
Vijver J. C. M.,
Woerkom T. C. A. M.
Publication year - 1992
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1992.tb05085.x
Subject(s) - carbamyl phosphate , coma (optics) , urea cycle , valproic acid , urea , medicine , carbamoyl phosphate synthetase , gastroenterology , enzyme , epilepsy , biochemistry , chemistry , psychiatry , physics , amino acid , arginine , optics
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.