Non-Ketotic Hyperglycinemia

被引:0
|
作者
San, Murat [1 ]
Cagan, Eren [2 ]
Isikay, Sedat [3 ]
San, Emine Sibel [4 ]
Cagan, Havva Hasret [5 ]
机构
[1] Gaziantep Cocuk Hastanesi, Cocuk Sagligi & Hastaliklari, Gaziantep, Turkey
[2] Gaziantep Cocuk Hastanesi, Cocuk Enfeksiyon Hastaliklari, Gaziantep, Turkey
[3] Gaziantep Cocuk Hastanesi, Cocuk Noroloji, Gaziantep, Turkey
[4] Gaziantep Univ, Tip Fak, Cocuk Sagligi & Hastaliklari Anabilim Dali, Gaziantep, Turkey
[5] Sevket Yilmaz Egitim & Arastirma Hastanesi, Cocuk Alerji & Immunolojisi Uzmani, Bursa, Turkey
来源
CUKUROVA MEDICAL JOURNAL | 2015年 / 40卷
关键词
Hyperglycinemia; Nonketotic; Infant; Newborn; Encephalopathies; Metabolic; Inborn;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:117 / 121
页数:5
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