Two novel missense mutations in nonketotic hyperglycinemia.
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.
Cukurova University Medical Faculty Department of Pediatric Metabolism and Nutrition, Adana, Turkey berna_seker@yahoo.co.uk.
Berna Seker
BS
Yilmaz
Cukurova University Medical Faculty Department of Pediatric Metabolism and Nutrition, Adana, Turkey.
Deniz
D
Kor
Intergen Genetic Laboratory, Ankara, Turkey.
Serdar
S
Ceylaner
Cukurova University Medical Faculty Department of Pediatric Neurology, Adana, Turkey.
Gulen Gul
GG
Mert
Cukurova University Medical Faculty Department of Pediatric Neurology, Adana, Turkey.
Faruk
F
Incecik
Cukurova University Medical Faculty Department of Pediatric Metabolism and Nutrition, Adana, Turkey.
Erkan
E
Kartal
Cukurova University Medical Faculty Department of Pediatric Metabolism and Nutrition, Adana, Turkey.
Neslihan Onenli
NO
Mungan
D050960:Aminomethyltransferase / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005998:Glycine / Q000097:blood / Q000134:cerebrospinal fluid; D050841:Glycine Dehydrogenase (Decarboxylating) / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis* / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D012326:RNA Splicing; D012131:Respiratory Insufficiency / Q000235:genetics
D050841:Glycine Dehydrogenase (Decarboxylating); D050960:Aminomethyltransferase; D005998:Glycine
mutation; nonketotic hyperglycinemia; novel