Yilmaz Berna Seker, Kor Deniz, Ceylaner Serdar, Mert Gulen Gul, Incecik Faruk, Kartal Erkan, Mungan Neslihan Onenli
Cukurova University Medical Faculty Department of Pediatric Metabolism and Nutrition, Adana, Turkey
Cukurova University Medical Faculty Department of Pediatric Metabolism and Nutrition, Adana, Turkey.
J Child Neurol. 2015 May;30(6):789-92. doi: 10.1177/0883073814535499. Epub 2014 May 16.
Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures with an elevated cerebrospinal fluid/plasma glycine ratio and diagnosed as nonketotic hyperglycinemia. We report these cases as 2 novel homozygous mutations; a missense mutation c.593A>T (p.D198 V) in the glycine decarboxylase gene and a splicing mutation c.339G>A (Q113Q) in the aminomethyltransferase gene were detected. We would like to emphasize the genetic difference of our region in inherited metabolic diseases once again.
非酮症高甘氨酸血症（OMIM编号：605899）是一种常染色体隐性遗传的甘氨酸脑病，由线粒体甘氨酸裂解系统缺陷引起。在此，我们报告2例因呼吸衰竭和肌阵挛性癫痫入院的新生儿，其脑脊液/血浆甘氨酸比值升高，诊断为非酮症高甘氨酸血症。我们报告这2例为2种新的纯合突变；在甘氨酸脱羧酶基因中检测到错义突变c.593A>T（p.D198V），在氨基甲基转移酶基因中检测到剪接突变c.339G>A（Q113Q）。我们想再次强调我们地区在遗传性代谢疾病方面的遗传差异。
