Literature summary for 2.1.2.10 extracted from

Azize, N.A.; Ngah, W.Z.; Othman, Z.; Md Desa, N.; Chin, C.B.; Md Yunus, Z.; Mohan, A.; Hean, T.S.; Syed Zakaria, S.Z.; Lock-Hock, N.
Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy (2014), J. Hum. Genet., 59, 593-597.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene AMT, genotyping in 14 glycine encephalopathy patients from 13 families from Malaysia, six patients (43%) have biallelic mutations in the AMT gene	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	in 14 glycine encephalopathy patients from 13 families, six patients (43%) have biallelic mutations in the AMT gene, most of which are missense mutations and family-specific	Homo sapiens
R265H	naturally occurring mutation in glycine encephalopathy patients and the Penan sub-population. Detection of four missense mutations (c.664C4T, c.688G4C, c.794G4A, c.826G4C) and one heterozygous deletion causing frameshift mutation (c.982delG) in AMT gene	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
brain	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
Amt	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	glycine encephalopathy (GCE) or nonketotic hyperglycinemia is an inborn error of glycine metabolism, inherited in an autosomal recessive manner due to a defect in any one of the four enzymes aminomethyltransferase (AMT), glycine decarboxylase (GLDC), glycine cleavage system protein-H (GCSH) and dehydrolipoamide dehydrogenase in the glycine cleavage system. This defect leads to glycine accumulation in body tissues, including the brain, and causes various neurological symptoms such as encephalopathy, hypotonia, apnea, intractable seizures and possible death, phenotypes, overview. Mutations in both GLDC and AMT genes are the main cause of glycine encephalopathy in Malaysian population	Homo sapiens

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Release 2023.1 (January 2023)