" /> Glycine encephalopathy - CISMeF





ICD-11 code : 5C50.70;

Preferred Label : Glycine encephalopathy;

ICD-11 definition : Isolated nonketotic hyperglycinemia is an inborn disorder of glycine metabolism which onset is generally neonatal with coma, severe hypotonia, myoclonic seizures, and microcephaly, usually progressing to severe intellectual deficit and tetrapyramidal syndrome.;

ICD-11 synonym : nonketotic hyperglycinaemia; Non-ketotic hyperglycinaemia; Glycine cleavage deficiency;

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Isolated nonketotic hyperglycinemia is an inborn disorder of glycine metabolism which onset is generally neonatal with coma, severe hypotonia, myoclonic seizures, and microcephaly, usually progressing to severe intellectual deficit and tetrapyramidal syndrome.

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14/06/2024


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