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Metabolic Brain Disease

, Volume 33, Issue 5, pp 1775–1778 | Cite as

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

  • Husniye Yucel
  • Çiğdem Seher Kasapkara
  • Meltem Akcaboy
  • Erhan Aksoy
  • Gülseren Evirgen Sahin
  • Betul Emine Derinkuyu
  • Saliha Senel
  • Serdar Ceylaner
Short Communication
  • 27 Downloads

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

Recurrent hepatic failure Status epilepticus Hyperargininemia Children 

Notes

Compliance with ethical standards

Conflict of interest

Authors declare that they have no conflict of interest.

References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Husniye Yucel
    • 1
  • Çiğdem Seher Kasapkara
    • 2
  • Meltem Akcaboy
    • 1
  • Erhan Aksoy
    • 3
  • Gülseren Evirgen Sahin
    • 4
  • Betul Emine Derinkuyu
    • 5
  • Saliha Senel
    • 1
  • Serdar Ceylaner
    • 6
  1. 1.Department of PediatricsDr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research HospitalAnkaraTurkey
  2. 2.Department of Pediatric Metabolism and NutritionDr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research HospitalAnkaraTurkey
  3. 3.Department of Pediatric NeurologySami Ulus Maternity and Children’s Health and Diseases Training and Research HospitalAnkaraTurkey
  4. 4.Department of Pediatric GastroenterologyAnkaraTurkey
  5. 5.Department of Pediatric RadiologyDr. Sami Ulus Maternity and Children’s Health and Diseases Training and Research HospitalAnkaraTurkey
  6. 6.Intergen Genetic CenterAnkaraTurkey

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