Catalog

Multiple carboxylase deficiency

No MMS code

Link to WHO Definition

Multiple carboxylase deficiency – http://id.who.int/icd/entity/1133091451

Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. There are two major clinical forms of MCD depending on their underlying cause: biotinidase deficiency and holocarboxylase synthetase deficiency.