Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.


Aka S. , ALANAY Y. , Boodhansingh K. E. , Stanley C. A. , Semiz S.

The Turkish journal of pediatrics, cilt.58, ss.541-544, 2016 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 58 Konu: 5
  • Basım Tarihi: 2016
  • Doi Numarası: 10.24953/turkjped.2016.05.014
  • Dergi Adı: The Turkish journal of pediatrics
  • Sayfa Sayısı: ss.541-544

Özet

Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare disorder presented with recurrent hypoglycemia and elevated serum ammonia, which may lead to development delays, permanent neurologic damages, if it remains underdiagnosed. It is caused by activating mutations in the GLUD1 gene which encodes the intra-mitochondrial enzyme glutamate dehydrogenase (GDH).