Holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency
Definition
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 early-onset multiple carboxylase deficiency, holocarboxylase synthase deficiency, holocarboxylase synthetase deficiency, neonatal multiple carboxylase deficiency — per MONDO