Abstract
Nonketotic hyperglycinemia (NKH) or glycine encephalopathy is an autosomal recessive disorder characterized by a rapidly progressive course in the neonatal period or early infancy. Symptoms include muscular hypotonia, seizures, apneic attacks, lethargy and coma. Most patients die within a few weeks, whereas survivors show severe psychomotor retardation. Increased glycine concentrations in plasma, urine, and cerebrospinal fluid are biochemical features of the disorder. The primary lesion is a defect in the glycine cleavage system (GCS) (Fig. 24.1). Although this was first demonstrated in the liver, involvement within the brain is responsible for the clinical expression. No specific treatment is available. Prenatal diagnosis is possible by determining the activity of GCS in chorionic villi.
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Dulac, O., Rolland, MO. (2006). Nonketotic Hyperglycinemia (Glycine Encephalopathy). In: Fernandes, J., Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg . https://doi.org/10.1007/978-3-540-28785-8_24
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DOI: https://doi.org/10.1007/978-3-540-28785-8_24
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