Multiple carboxylase deficiency

Multiple carboxylase deficiency
Left- Diffuse alopecia and seborrheic dermatitis before treatment, Right- thick crop of dark hair after doses of biotin

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:

If left untreated, the symptoms can include feeding problems, decreased body tone, generalized red rash with skin exfoliation and baldness, failure to thrive, seizure, coma, developmental delay, foul smelling urine, lactic acidosis, and high levels of ketones and ammonia in the blood.

References

  1. "Multiple Carboxylase Deficiency". Archived from the original on 2008-08-28.
  2. "Definition: multiple carboxylase deficiency from Online Medical Dictionary".
Classification
External resources


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