Çukurova Üniversitesi Tıp Fakültesi Dergisi (Mar 2015)
Non-Ketotic Hyperglycinemia
Abstract
On the newborn period some metabolic diseases may cause encephalopathy clinic which can threat the life. This is related with tke accumulation of metabolic intermediates ond the brain and their toxic effects.Babies are usually asymptomatic at birth. By the accumulation of toxic metabolytes patients have the encephalopathy symptoms such as hypotonia, hypertonia, convulsions and lethargy. in this article we report a patient who came to the clinic with decreased absorbtion, widely hypotonia, myoclonic seizures and hiccups and who has been diagnosed as non ketotic hyperglycinemia. [Cukurova Med J 2015; 40(Suppl 1): 117-121]