AI Article Synopsis
- Argininemia is a genetic disorder caused by a lack of hepatic arginase, an enzyme that plays a crucial role in breaking down arginine in the urea cycle.
- The case report discusses a patient with arginase I deficiency who experienced repeated nonconvulsive status epilepticus and liver failure.
- A new genetic mutation was identified in the patient, described as a homozygous frameshift mutation (c.703_707delGGACTinsAGACTGGACC) leading to a change in the protein (p.G235Rfs*20).
Article 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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| http://dx.doi.org/10.1007/s11011-018-0281-8 | DOI Listing |
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