Glycine encephalopathy (Q40023): Difference between revisions
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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 |
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| 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. |
