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GTR Home > Conditions/Phenotypes > Glycine encephalopathy 2

Glycine encephalopathy 2

Summary

Glycine encephalopathy (GCE), also called nonketotic hyperglycinemia (NKH), is an inborn error of metabolism characterized by accumulation of a large amount of glycine in body fluids. Typical cases have severe neurologic features, including seizures, lethargy, and muscular hypotonia soon after birth, and most die with the neonatal period; atypical cases have later onset and less severe psychomotor development (summary by Nanao et al., 1994). For a general description and a discussion of genetic heterogeneity of glycine encephalopathy, see GCE1 (605899). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GCE, GCE2, GCST, GCVT, NKH, AMT
    Summary: aminomethyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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