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biotinidase deficiency

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

Synonyms

  • BTD deficiency
  • biotin deficiency
  • biotinidase deficiency
  • deficiency of biotinidase
  • juvenile-onset multiple carboxylase deficiency
  • late-onset biotin-responsive multiple carboxylase deficiency
  • late-onset multiple carboxylase deficiency
  • multiple carboxylase deficiency, juvenile-onset
  • multiple carboxylase deficiency, late-onsetBTD deficiency
  • biotin deficiency
  • biotinidase deficiency
  • deficiency of biotinidase
  • juvenile-onset multiple carboxylase deficiency
  • late-onset biotin-responsive multiple carboxylase deficiency
  • late-onset multiple carboxylase deficiency
  • multiple carboxylase deficiency, juvenile-onset
  • multiple carboxylase deficiency, late-onset
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