3-methylglutaconic aciduria type 4 (Q101495): Difference between revisions
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A acidúria 3-metilglutacônica tipo IV, ou 3-MGA não classificado, é um distúrbio clinicamente heterogêneo caracterizado por aumento da excreção de ácido 3-metilglutacônico em indivíduos que não podem ser classificados como tendo uma das outras formas de 3-MGA (3 -MGA I, II ou III). Os pacientes geralmente apresentam achados neurológicos durante o primeiro ano de vida, incluindo retardo psicomotor, hipotonia, atraso no desenvolvimento, convulsões e espasticidade progressiva, juntamente com grave insuficiência de crescimento. | |||
| description / en | description / en | ||
3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). Patients usually present during the first year of life with neurological findings including psychomotor retardation, hypotonia, developmental delay, seizures and progressive spasticity, together with severe failure to thrive. | |||
Revision as of 18:18, 16 August 2026
3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). Patients usually present during the first year of life with neurological findings including psychomotor retardation, hypotonia, developmental delay, seizures and progressive spasticity, together with severe failure to thrive.
| Language | Label | Description | Also known as |
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| default for all languages | ID_185382411 |
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| English | 3-methylglutaconic aciduria type 4 |
3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). Patients usually present during the first year of life with neurological findings including psychomotor retardation, hypotonia, developmental delay, seizures and progressive spasticity, together with severe failure to thrive. |
