Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinemia

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...

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Bibliographic Details
Published in:Çukurova Üniversitesi tip fakültesi dergisi Vol. 40; no. 1; pp. 117 - 121
Main Authors: Murat san, Eren Cagan, Sedat IsIKAY, Emine Sibel san, Havva Hasret Cagan
Format: Journal Article
Language:English
Turkish
Published: Cukurova University 01-03-2015
Subjects:
Hyperglycinemia
Inborn
Metabolic
Newborn; Encephalopathies
Nonketotic; Infant
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Summary: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]
ISSN:0250-5150