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

Yucel H., Kasapkara Ç. S., Akcaboy M., Aksoy E., Sahin G. E., Derinkuyu B. E., ...Daha Fazla

Metabolic Brain Disease, cilt.33, sa.5, ss.1775-1778, 2018 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 5
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1007/s11011-018-0281-8
  • Dergi Adı: Metabolic Brain Disease
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1775-1778
  • Anahtar Kelimeler: Recurrent hepatic failure, Status epilepticus, Hyperargininemia, Children, ARGINASE I DEFICIENCY, HYPERAMMONEMIA, ARGININEMIA, MUTATION
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

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