Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia
Husniye Yucel1, Çiğdem Seher Kasapkara2, Meltem Akcaboy3
1Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Babur Caddesi No. 44, 06080, Altındag, Ankara, Turkey.
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.
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