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Case Reports
. 2018 Oct;33(5):1775-1778.
doi: 10.1007/s11011-018-0281-8. Epub 2018 Jun 30.

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

Husniye Yucel  1 , Çiğdem Seher Kasapkara  2 , Meltem Akcaboy  3 , Erhan Aksoy  4 , Gülseren Evirgen Sahin  5 , Betul Emine Derinkuyu  6 , Saliha Senel  1 , Serdar Ceylaner  7
Affiliations
Case Reports

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

Husniye Yucel et al. Metab Brain Dis. 2018 Oct.

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.

Keywords: Children; Hyperargininemia; Recurrent hepatic failure; Status epilepticus.

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