Glycine encephalopathy (Q40023): Difference between revisions
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A hiperglicinemia não cetótica isolada é um distúrbio inato do metabolismo da glicina, cujo início é geralmente neonatal com coma, hipotonia grave, convulsões mioclônicas e microcefalia, geralmente progredindo para incapacidade intelectual grave e síndrome extrapiramidal. | |||
| description / en | description / en | ||
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. | |||
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. |
