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