Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia
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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.
KeywordsRecurrent hepatic failure Status epilepticus Hyperargininemia Children
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Authors declare that they have no conflict of interest.
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