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Literature summary for 1.4.4.2 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 .
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
gene GLDC, DNA and amino acid sequence determination and analysis, genotyping Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information screening of 14 patients with glycine encephalopathy (GCE) or nonketotic hyperglycinemia from 13 families and genotyping: seven patients (50%) have biallelic mutations in GLDC gene, six patients (43%) have biallelic mutations in AMT gene and one patient (7%) has a mutation identified in only one allele in GLDC gene. The majority of the mutations in GLDC and AMT are missense mutations and family specific. Two mutations R265H in AMT gene and H651R in GLDC gene occur in the Penan sub-population. No mutation is found in GCSH gene Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P23378
-
-

Synonyms

Synonyms Comment Organism
GLDC
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Homo sapiens
glycine decarboxylase
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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. Mutations in both GLDC and AMT genes are the main cause of GCE in Malaysian population Homo sapiens