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Author: search.filters.author.Stanley, Charles A.Subject: search.filters.subject.hyperammonemia

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    Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome
    (TURKISH J PEDIATRICS, 2016-01-01) Aka, Sibel; Alanay, Yasemin; Boodhansingh, Kara E.; Stanley, Charles A.; Semiz, Serap
    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). HI/HA syndrome is considered the second most common form of hyperinsulinism (HI), and usually associated with epileptic seizures, mental retardation and generalized dystonia. We reported a patient who was diagnosed as HI/HA with multiple episodes of seizures