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, vol.58, no.5, pp.541-544, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 58 Issue: 5
  • Publication Date: 2016
  • Doi Number: 10.24953/turkjped.2016.05.014
  • Journal Name: The Turkish journal of pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.541-544
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes

Abstract

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).