Catalog

Multiple carboxylase deficiency due to biotinidase deficiency

No MMS code

Link to WHO Definition

Multiple carboxylase deficiency due to biotinidase deficiency – http://id.who.int/icd/entity/1336432647

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterised by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.