isobutyryl-CoA dehydrogenase deficiency
MONDO:0012648
An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, 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).
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No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
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Isobutyryl-coenzyme A dehydrogenase deficiency
Isobutyryl-coenzyme A dehydrogenase deficiency is a rare metabolic disorder in which the body is unable to process certain amino acids properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine, resulting in a buildup of valine in the urine, a symptom called valinuria.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.