|Multiple carboxylase deficiency
|Classification and external resources
Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.
The deficiency can be in biotinidase or holocarboxylase synthetase.
These conditions respond to biotin.
If left untreated, the symptoms can include feeding problems, hypotonia, generalised erythematous rash with skin exfoliation and alopecia, failure to thrive, seizure, coma, developmental delay, foul smelling urine, metabolic acidosis, ketosis and hyperammonemia.