A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.
Nonketotic hyperglycinemia is an inborn error of glycine metabolism. It manifests mostly as an acute encephalopathy in the neonatal period, although later, atypical presentations have also been reported. Mutations in 3 different genes have been implicated in nonketotic hyperglycinemia. Here we report a novel mutation, c.2296G>T (p.Gly766Cys), in exon 19 of the glycine decarboxylase (GLDC) gene (Refseq accession number NM_000170.2) in a consanguineous Indian couple with a history of 4 neonatal deaths.
1Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand.
Jennifer M
JM
Love
Debra
D
Prosser
Donald R
DR
Love
Krishna Prakash
KP
Chintakindi
Ashwin B
AB
Dalal
Shagun
S
Aggarwal
D003241:Consanguinity; D004252:DNA Mutational Analysis; D005192:Family Health; D005820:Genetic Testing; D050841:Glycine Dehydrogenase (Decarboxylating) / Q000235:genetics*; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000235:genetics*; D007194:India; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*
D050841:Glycine Dehydrogenase (Decarboxylating)
   GLDC gene; glycine decarboxylase; glycine metabolism; nonketotic hyperglycinemia