Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Inborn disorder of branched-chain amino acid metabolism · Multiple carboxylase deficiency
Holocarboxylase synthetase deficiency
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.
This condition has no sub-types.