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Pathway Description
Hyperglycinemia, Non-Ketotic
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Nonketotic hyperglycinemia (GCE) is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective GLDC gene. GLDC encodes for the enzymes involved in the conversion of glycine to CO2, NH3 and hydroxymethyltetrahydrofolic acid. Most patients have abnormally low oxalate excretion in the urine. Other symptoms start presenting in the first few days of life and include lethargy, hypotonia, and myoclonic jerks, and progressing to apnea. GCE often leads to death, and those who regain spontaneous respiration develop intractable seizures and profound mental retardation. Currently there is no cure for Nonketotic hyperglycinemia therefore treatment involves managing symptoms. Frequency for Nonketotic hyperglycinemia has not been documented worldwide.
References
Hyperglycinemia, Non-Ketotic References
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Glycine and Serine Metabolism References
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This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000485
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