Multiple carboxylase deficiency
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| 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
feeding problems,hypotonia,generalised erythematous rash with exfoliation and alopecia,failure to thrive,seizure,coma,developmental delay tomcat urine,metabolic acidosis,ketosis,hyperammonemia
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