Glycine encephalopathy (Q40023): Difference between revisions

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Latest revision as of 05:40, 13 August 2026

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

Language	Label	Description	Also known as
default for all languages	5C50.70
English	Glycine encephalopathy	Isolated nonketotic hyperglycinemia is an inborn disorder of glycine metabolism whose onset is generally neonatal with coma, severe hypotonia, myoclonic seizures, and microcephaly, usually progressing to severe intellectual deficit and tetrapyramidal syndrome.