Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia


Yucel H., Kasapkara C. S. , Akcaboy M., Aksoy E., Sahin G. E. , Derinkuyu B. E. , ...More

METABOLIC BRAIN DISEASE, vol.33, no.5, pp.1775-1778, 2018 (Peer-Reviewed Journal) identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 5
  • Publication Date: 2018
  • Doi Number: 10.1007/s11011-018-0281-8
  • Journal Name: METABOLIC BRAIN DISEASE
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.1775-1778
  • Keywords: Recurrent hepatic failure, Status epilepticus, Hyperargininemia, Children, ARGINASE I DEFICIENCY, HYPERAMMONEMIA, ARGININEMIA, MUTATION

Abstract

Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. Herein we report a patient with arginase I (ARG1) deficiency who presented with recurrent nonconvulsive status epilepticus and liver failure. A novel homozygous frameshift mutation c.703_707delGGACTinsAGACTGGACC (p.G235Rfs*20) was detected.