Multiple carboxylase deficiency (Q63447): Difference between revisions

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.