Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma.
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.
Verbiest
H B
HB
Department of Neurology, Municipal Hospital Leyenburg, The Hague, The Netherlands.
Straver
J S
JS
Colombo
J P
JP
van der Vijver
J C
JC
van Woerkom
T C
TC
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology; D000641:Ammonia / Q000097:blood; D001284:Atrophy; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D003128:Coma / Q000139:chemically induced* / Q000201:enzymology; D003337:Corpus Callosum / Q000473:pathology; D004305:Dose-Response Relationship, Drug; D004359:Drug Therapy, Combination; D004829:Epilepsy, Generalized / Q000188:drug therapy* / Q000201:enzymology; D005260:Female; D005973:Glutamine / Q000134:cerebrospinal fluid; D006801:Humans; D010672:Phenytoin / Q000627:therapeutic use; D014057:Tomography, X-Ray Computed; D014635:Valproic Acid / Q000009:adverse effects* / Q000627:therapeutic use
D005973:Glutamine; D014635:Valproic Acid; D010672:Phenytoin; D000641:Ammonia; D002222:Carbamoyl-Phosphate Synthase (Ammonia)