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Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) Summary

Description: The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.

Also Known As: Multiple Carboxylase Deficiency, Late Onset; Carboxylase Deficiency, Multiple, Late-Onset; Deficiency, Biotinidase; Deficiency, Multiple Carboxylase, Late-Onset; Biotinidase Deficiencies Show All >>

Networked: 173 relevant articles (7 outcomes, 6 trials/studies) for this Disease

Key Drugs and Agents for Biotinidase Deficiency

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Biotin (Vitamin H) : 7 outcomes 2 studies in 103 results : FDA 13
  2. Vitamins : 1 outcome in 11 results : IBA
  3. Biotinidase : 3 studies in 45 results : IBA
  4. biocytin : 1 study in 11 results : IBA
  5. Valproic Acid (Valproate, Semisodium) : 1 study in 3 results : FDA 51 Generic
  6. Transaminases : 1 study in 1 result : IBA
  7. Adenosine Monophosphate (AMP) : 1 study in 1 result : IBA
  8. Late-onset multiple carboxylase deficiency : 14 results : IBA
  9. Ligases : 9 results : IBA
  10. DNA (Deoxyribonucleic Acid) : 6 results : IBA
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Diseases Related to Biotinidase Deficiency

  1. Exanthema (Rash)
  2. Ataxia (Dyssynergia)
  3. Muscle Hypotonia (Hypotonia)
  4. Seizures (Seizure)
  5. Alopecia (Baldness)
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Key Therapies for Biotinidase Deficiency

Efficacy Chart >>
  1. Erythrocyte Transfusion : 1 result
  2. Anesthesia : 1 result
  3. Aftercare (After-Treatment) : 1 result
  4. Oral Administration : 1 result

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