Two Novel Missense Mutations in Nonketotic Hyperglycinemia


YILMAZ B. S. , KOR D. , CEYLANER S., MERT G. G. , İNCECİK F. , KARTAL E., et al.

JOURNAL OF CHILD NEUROLOGY, cilt.30, ss.789-792, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 30 Konu: 6
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1177/0883073814535499
  • Dergi Adı: JOURNAL OF CHILD NEUROLOGY
  • Sayfa Sayısı: ss.789-792

Özet

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.