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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 The Effects of Biotin Supplementation on Alopecia in Rats Treated with Valproic Acid

September 2009 in “European journal of paediatric neurology”

Biotin supplements did not significantly reduce hair loss in rats on valproic acid.

research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler

November 2025 in “Journal of Saidu Medical College Swat”

Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.

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.

research Acrodermatitis Enteropathica-Like Skin Eruption With Neonatal Seizures in a Child With Biotinidase Deficiency

4 citations , July 2019 in “Clinical and experimental dermatology”

Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.

research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population

8 citations , December 2019 in “Molecular genetics and metabolism reports”

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

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