Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma

Acta Neurol Scand. 1992 Sep;86(3):275-9. doi: 10.1111/j.1600-0404.1992.tb05085.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Ammonia / blood
  • Atrophy
  • Carbamoyl-Phosphate Synthase (Ammonia) / deficiency*
  • Coma / chemically induced*
  • Coma / enzymology
  • Corpus Callosum / pathology
  • Dose-Response Relationship, Drug
  • Drug Therapy, Combination
  • Epilepsy, Generalized / drug therapy*
  • Epilepsy, Generalized / enzymology
  • Female
  • Glutamine / cerebrospinal fluid
  • Humans
  • Phenytoin / therapeutic use
  • Tomography, X-Ray Computed
  • Valproic Acid / adverse effects*
  • Valproic Acid / therapeutic use

Substances

  • Glutamine
  • Valproic Acid
  • Phenytoin
  • Ammonia
  • Carbamoyl-Phosphate Synthase (Ammonia)