Nonketotic hyperglycinemia

Definition:

Nonketotic hyperglycinemia is an inborn error of glycine metabolism caused by a deficiency of the glycine cleavage system, which is composed of four proteins in the mitochondria and results in severe neurologic dysfunctions.

References:

[1]. Avihu Boneh, et al. A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. J Hum Genet. 2005;50(5):230-234. [Content Brief]

[2]. D A Applegarth, et al. Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab. 2001 Sep-Oct;74(1-2):139-46. [Content Brief]

[3]. J R Toone, et al. Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Mol Genet Metab. 2000 Jun;70(2):116-21. [Content Brief]

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