Multiple carboxylase deficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Multiple carboxylase deficiency

Classification and external resources
MeSH | D009100

Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes.

The deficiency can be in biotinidase or holocarboxylase synthetase.[1]

These conditions respond to biotin.[2]

Forms include:

* Holocarboxylase synthetase deficiency \- neonatal;
* Biotinidase deficiency \- late onset;

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.

## References

[edit | edit source]

1. ↑ "Multiple Carboxylase Deficiency".
2. ↑ "Definition: multiple carboxylase deficiency from Online Medical Dictionary".

## External links

[edit | edit source]

* http://www.pmh.health.wa.gov.au/services/newborn/health_professionals/disorders/mcd_prof.htm

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