Literature summary for 1.4.4.2 extracted from

Kose, E.; Yis, U.; Hiz, S.; Arslan, N.
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia (2017), Neurosciences (Riyadh), 22, 131-133 .

Search for more literature for 1.4.4.2

Protein Variants

Protein Variants	Comment	Organism
R998Q	homozygous mutation within the GLDC gene is detected in a neonate with the neonatal type of nonketotic hyperglycinemia	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P23378	-	-

General Information

General Information	Comment	Organism
malfunction	non-ketotic hyperglycinemia is an autosomal recessive inborn error of metabolism and is caused by a glycine cleavage system deficiency, resulting in high levels of glycine in all tissues including the brain	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)