holocarboxylase synthetase deficiency
MONDO:0009666
A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body cannot use biotin – a B vitamin – effectively. This disorder is classified as a multiple carboxylase deficiency, characterized by impaired activity of certain enzymes that depend on biotin. Symptoms are very similar to biotinidase deficiency, and treatment – large doses of biotin – is also the same.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.