aminomethyltransferase and Epilepsies--Myoclonic

aminomethyltransferase has been researched along with Epilepsies--Myoclonic* in 1 studies

Other Studies

1 other study(ies) available for aminomethyltransferase and Epilepsies--Myoclonic

Article	Year
Two novel missense mutations in nonketotic hyperglycinemia. Journal of child neurology, 2015, Volume: 30, Issue:6 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. Topics: Aminomethyltransferase; Epilepsies, Myoclonic; Female; Genetic Predisposition to Disease; Glycine; Glycine Dehydrogenase (Decarboxylating); Homozygote; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn; Male; Mutation, Missense; Respiratory Insufficiency; RNA Splicing	2015

Article

Year

Two novel missense mutations in nonketotic hyperglycinemia.

Journal of child neurology, 2015, Volume: 30, Issue:6

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.

Topics: Aminomethyltransferase; Epilepsies, Myoclonic; Female; Genetic Predisposition to Disease; Glycine; Glycine Dehydrogenase (Decarboxylating); Homozygote; Humans; Hyperglycinemia, Nonketotic; Infant, Newborn; Male; Mutation, Missense; Respiratory Insufficiency; RNA Splicing

2015