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

Yucel, Husniye; Kasapkara, ÇİĞDEM; Akcaboy, Meltem; Aksoy, Erhan; Sahin, Gülseren; Derinkuyu, Betul; Senel, SALİHA; CEYLANER, SERDAR

doi:10.1007/s11011-018-0281-8

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., ...More

Metabolic Brain Disease, vol.33, no.5, pp.1775-1778, 2018 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 33 Issue: 5
Publication Date: 2018
Doi Number: 10.1007/s11011-018-0281-8
Journal Name: Metabolic Brain Disease
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.1775-1778
Keywords: Children, Hyperargininemia, Recurrent hepatic failure, Status epilepticus
Ankara Yıldırım Beyazıt University Affiliated: Yes

Abstract

© 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.