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, sa.5, ss.541-544, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 58 Sayı: 5
  • Basım Tarihi: 2016
  • Doi Numarası: 10.24953/turkjped.2016.05.014
  • Dergi Adı: The Turkish journal of pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.541-544
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

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).