[Non-ketotic hyperglycinemia. Study of a case].
Non-ketotic hyperglycinemia is one of inborn metabolic errors that manifest by epileptic seizures of difficult control from the first days of life in hypotonic newborn children. The lack of enzyme that catalyzes the conversion of glycine to hydroxymethyltetrahydrofolic acid, carbon dioxide and ammonia, in liver and brain, results in increased concentration of glycine in blood. It is reported in this study a case of non-ketotic hyperglycinemia diagnosed in neonatal period and characterized by hypotonia and non-controlled multiple seizures. The clinical and electroencephalographic findings, treatment as well as anatomopathologic study are discussed.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000503:physiopathology; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology; D005260:Female; D005998:Glycine / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn
D005998:Glycine
Hiperglicinemia não cetótica. Estudo de um caso.