| Carrier of a glycine encephalopathy mutation |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
8.8
|
Glycine encephalopathy; Non-ketotic hyperglycinemia
|
| (C;G)
|
3
|
Carrier of a glycine encephalopathy mutation
|
| (G;G)
|
0
|
common in clinvar
|
Unaffected in absence of a second mutation in the GLDC gene
Carriers of a single T allele demonstrate no clinical manifestations of glycine encephalopathy, although offspring who inherit two mutant alleles would be expected to
exhibit a range of developmental delays without appropriate medical treatment.
"Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), which is an inborn error of glycine metabolism defined by deficient activity of the glycine cleavage enzyme and, as a consequence, accumulation of large quantities of glycine in all body tissues including the brain."
[1]
It is also of interest that lowered expression of GLDC has been related to lower rates of various cancers.[PMID 25855294],[PMID 25496516],[PMID 22225612]
