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GlossaryBiotinidase Deficiency

rare genetic disorder impairing biotin recycling, causing hair loss

Biotinidase Deficiency is a rare genetic disorder where the body cannot properly recycle biotin, a vital B-vitamin necessary for various metabolic processes. This deficiency can lead to symptoms like hair loss (alopecia), skin rashes, and neurological issues if untreated, but it can be managed effectively with biotin supplements.

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research Biotin And Biotinidase Deficiency

166 citations , November 2008 in “Expert Review of Endocrinology & Metabolism”

Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.

research Partial Biotinidase Deficiency: Clinical and Biochemical Features

86 citations , January 1990 in “The Journal of Pediatrics”

Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.

research Late Presentation of Biotinidase Deficiency with Acute Visual Loss and Gait Disturbance

31 citations , December 1997 in “Developmental Medicine & Child Neurology”

Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.

research Biotinidase Deficiency: Rapid Diagnosis Can Make All the Difference

12 citations , September 2011 in “BMJ Case Reports”

Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.

research Biotinidase Deficiency Characterized by Skin and Hair Findings

10 citations , April 2020 in “Clinics in Dermatology”

Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.

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