PT  - JOURNAL ARTICLE
AU  - Kose, Engin
AU  - Yis, Uluc
AU  - Hiz, Semra
AU  - Arslan, Nur
TI  - A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia
AID  - 10.17712/nsj.2017.2.20160468
DP  - 2017 Apr 01
TA  - Neurosciences Journal
PG  - 131--133
VI  - 22
IP  - 2
4099  - http://nsj.org.sa/content/22/2/131.short
4100  - http://nsj.org.sa/content/22/2/131.full
SO  - Neurosciences (Riyadh)2017 Apr 01; 22
AB  - Non-ketotic hyperglycinemia (NKH) is a rare inborn error of metabolism and is caused by a glycine cleavage system deficiency. Eighty-five percent of patients present with the neonatal type of NKH, the infants initially develop lethargy, seizures, and episodes of apnea, and most often death. Between 60-90% of cases are caused by mutations in the glycine decarboxylase (GLDC). We believed that more mutation reports especially for rare disease as NKH help to evaluate the genotype-phenotype relationship in patients with GLDC. In this study, we describe a case of a neonate admitted to intensive care unit with hypotonia, respiratory failure, lethargy, poor feeding. Due to the history of 2 non-ketotic hyperglycinemia diagnosed male siblings, molecular prenatal diagnosis in patient was performed and a novel c.2963G>A (Arg998Gln) homozygous mutation within the GLDC gene has been detected. We aimed to contribute to mutation knowledge pool of GLDC gene with a novel mutation.