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.

Also known as: multiple carboxylase deficiency, early-onset multiple carboxylase deficiency, holocarboxylase synthase deficiency, holocarboxylase synthetase deficiency, neonatal multiple carboxylase deficiency, HLCS deficiency, multiple carboxylase deficiency, early onset, multiple carboxylase deficiency, neonatal form

2 clinical trials for this condition and its sub-types, 1 tagged with Holocarboxylase synthetase deficiency itself.