2-methylbutyric aciduria (Q86123): Difference between revisions
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A deficiência de 2-metilbutiril-CoA desidrogenase (ou acil-coA desidrogenase de cadeia curta/ramificada) é uma acidúria orgânica caracterizada por aumento da excreção urinária de 2-metilbutirilglicina e aumento das concentrações sanguíneas e plasmáticas de 2-metilbutiril carnitina , associado a um fenótipo variável que varia de pacientes assintomáticos a aqueles com hipotonia muscular, paralisia cerebral, atraso no desenvolvimento, letargia, hipoglicemia e acidose metabólica. | |||
| description / en | description / en | ||
2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is an organic aciduria characterised by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine, associated from a variable phenotype ranging from asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycaemia, and metabolic acidosis. | |||
Revision as of 11:29, 15 August 2026
2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is an organic aciduria characterised by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine, associated from a variable phenotype ranging from asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycaemia, and metabolic acidosis.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1141171278 |
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| English | 2-methylbutyric aciduria |
2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is an organic aciduria characterised by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine, associated from a variable phenotype ranging from asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycaemia, and metabolic acidosis. |
