2-methylbutyric aciduria (Q86123): Difference between revisions
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13 August 2026
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Latest 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. |
Statements
CID11:ID_1141171278
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dki-india-ID_1141171278
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Concluído
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13 August 2026
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