Metabolic Brain Disease, vol.33, no.5, pp.1775-1778, 2018 (SCI-Expanded)
Article / Article
Metabolic Brain Disease
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Recurrent hepatic failure, Status epilepticus, Hyperargininemia, Children, ARGINASE I DEFICIENCY, HYPERAMMONEMIA, ARGININEMIA, MUTATION
Lokman Hekim University Affiliated:
© 2018, Springer Science+Business Media, LLC, part of Springer Nature.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.