3-methylglutaconic aciduria type 1 (Q101488): Difference between revisions
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A acidúria 3-metilglutacônica (3-MGA) tipo I é um erro inato do metabolismo da leucina com um fenótipo clínico variável que varia de fala levemente atrasada a retardo psicomotor, coma, deficiência de crescimento, acidose metabólica e distonia. | |||
| description / en | description / en | ||
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. | |||
Revision as of 18:18, 16 August 2026
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_899935975 |
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| English | 3-methylglutaconic aciduria type 1 |
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. |
