Isobutyric aciduria (Q86134): Difference between revisions
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A deficiência de isobutiril-CoA desidrogenase é um erro inato do metabolismo da valina. A prevalência é desconhecida. Apenas um paciente sintomático (com anemia, deficiência de crescimento, cardiomiopatia dilatada e deficiência de carnitina plasmática) foi descrito até agora, mas várias séries de pacientes foram identificadas por meio de programas de triagem neonatal contando com a detecção de níveis aumentados de C(4) carnitina por espectrometria de massa em tandem. O distúrbio é causado por mutações no gene ACAD8 (11q25). | |||
| description / en | description / en | ||
Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). | |||
Revision as of 11:29, 15 August 2026
Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1304417099 |
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| English | Isobutyric aciduria |
Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). |
