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StatPearls, LLC

  • Alopecia
  • Ataxia
  • Biotin
  • Biotinidase Deficiency
  • Coma

Biotinidase Deficiency

Biotinidase deficiency represents an autosomal recessive disorder that impairs the recycling of biotin, an essential coenzyme for 4 carboxylation enzymes: 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, acetyl-CoA carboxylase, and propionyl-CoA carboxylase. Deficiency causes multiple carboxylase deficiency and disrupts amino acid, fatty acid, and gluconeogenesis pathways. The condition is classified as profound (0%-10% enzyme activity) or partial (10%-30% enzyme activity). Consanguinity is a major risk factor. Profound deficiency can present with developmental delay, seizures, hypotonia, alopecia, vision or hearing loss, ataxia, metabolic acidosis, and, without treatment, coma or death. Partial deficiency is often asymptomatic or associated with mild symptoms during stress. Diagnosis relies on newborn screening and confirmatory enzyme assay, which have markedly improved outcomes. Treatment consists of lifelong oral biotin supplementation, which prevents metabolic decompensation but may not reverse neurologic or sensory deficits, emphasizing the need for urgent detection and intervention. Prognosis is excellent with timely therapy. This activity for healthcare professionals is designed to enhance learners’ competence in evaluating and managing biotinidase deficiency. Participants will deepen their understanding of the condition’s etiology, risk factors, pathophysiology, clinical presentation, and best diagnostic and therapeutic practices. Improved skills will empower clinicians to collaborate successfully with interprofessional teams caring for individuals with this condition.

Credit & MOC Details

Credit information is provided by the course provider. We recommend confirming credit eligibility with the provider or your licensing board before starting the activity.

Credit types

AAPA Category 1 Credit™Up to 1.5 creditsAMA PRA Category 1 Credit™Up to 1.5 creditsNursingUp to 1.5 creditsPharmacyUp to 1.5 credits

MOC types

ABS — Accredited CMEUp to 1.5 pointsABPATH — Lifelong LearningUp to 1.5 pointsABTS — Accredited CMEUp to 1.5 pointsABIM — Medical KnowledgeUp to 1.5 pointsABS — Self-AssessmentUp to 1.5 pointsABP — Lifelong Learning and Self-AssessmentUp to 1.5 pointsABTS — Self-AssessmentUp to 1.5 points

FDA REMS

No

Qualifies for MIPS

No

Target Specialties

Cross-Specialty

Relevant across 6 specialties.

Pricing

Fee varies

This provider typically $49–98

See fees on statpearls.com

Listed by the provider

  • Article / monograph / reference
  • Credit · Up to 1.5 credits
  • MOC · Up to 1.5 points
  • Fee varies · this provider typically $49–98
  • Released
    Sep 1, 2026
  • Last day to claim credit
    Sep 1, 2029 3 years left

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