Catalog

Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency

No MMS code

Link to WHO Definition

Multiple carboxylase deficiency due to holocarboxylase synthetase deficiency – http://id.who.int/icd/entity/1184113045

Holocarboxylase synthetase deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterised by vomiting, tachypnoea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.