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    Glossary Biotinidase 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 10 of 141

    1. Phenotypic variation in biotinidase deficiency 1983 · 184 citations
    2. Biotin and biotinidase deficiency Expert Review of Endocrinology & Metabolism · 2008 · 166 citations
    3. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. PubMed · 2020 · 89 citations
    4. Partial biotinidase deficiency: Clinical and biochemical features The Journal of Pediatrics · 1990 · 86 citations
    5. Biotinidase deficiency: a survey of 10 cases. Archives of Disease in Childhood · 1988 · 72 citations
    6. Late presentation of biotinidase deficiency with acute visual loss and gait disturbance Developmental Medicine & Child Neurology · 1997 · 31 citations
    7. Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference! BMJ Case Reports · 2011 · 12 citations
    8. Biotinidase deficiency characterized by skin and hair findings Clinics in Dermatology · 2020 · 10 citations
    9. Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases Screening · 1992 · 10 citations
    10. Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population Molecular genetics and metabolism reports · 2019 · 8 citations
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