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    Glossary Biotinidase

    enzyme recycling biotin, crucial for metabolism and hair health

    Biotinidase is an enzyme that plays a crucial role in recycling biotin, a B-vitamin essential for the body's metabolism of fats, carbohydrates, and proteins. Deficiency in biotinidase can lead to biotin deficiency, which may cause symptoms like hair loss, skin rashes, and neurological issues. This enzyme's activity is vital for maintaining adequate biotin levels and overall metabolic health.

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    Research 30 of 153

    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. Low Serum Biotinidase Activity in Children with Valproic Acid Monotherapy Epilepsia · 2001 · 73 citations
    6. Biotinidase deficiency: a survey of 10 cases. Archives of Disease in Childhood · 1988 · 72 citations
    7. The influence of valproic acid treatment on hair and serum zinc levels and serum biotinidase activity European journal of paediatric neurology · 2008 · 36 citations
    8. Late presentation of biotinidase deficiency with acute visual loss and gait disturbance Developmental Medicine & Child Neurology · 1997 · 31 citations
    9. The effects of biotin supplementation on serum and liver tissue biotinidase enzyme activity and alopecia in rats which were administrated to valproic acid Brain & development · 2008 · 22 citations
    10. The Influence of Valproic Acid and Carbamazepine Treatment on Serum Biotin and Zinc Levels and on Biotinidase Activity Journal of child neurology · 2011 · 21 citations
    11. Serum Biotinidase Activity in Children Treated With Valproic Acid and Carbamazepine Journal of child neurology · 2009 · 16 citations
    12. Serum and liver tissue biotinidase enzyme activity in rats which were administrated to valproic acid Brain & development · 2006 · 15 citations
    13. Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference! BMJ Case Reports · 2011 · 12 citations
    14. Biotinidase deficiency characterized by skin and hair findings Clinics in Dermatology · 2020 · 10 citations
    15. Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases Screening · 1992 · 10 citations
    16. Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population Molecular genetics and metabolism reports · 2019 · 8 citations
    17. Possible involvement of partial biotinidase deficiency in alopecia areata Journal of the European Academy of Dermatology and Venereology · 1996 · 6 citations
    18. Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency Clinical and experimental dermatology · 2019 · 4 citations
    19. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    20. Biotinidase Deficiency Accompanying Hair Changes and Periorificial Lesions: A Case Report Turkish Journal of Dermatology · 2011 · 1 citations
    21. Possible involvement of partial biotinidase deficiency in alopecia areata Journal of the European Academy of Dermatology and Venereology · 1996 · 1 citations
    22. Study of association between valproic acid levels, biotinidase activity and hair loss in Indian population: A cross-sectional comparative study Indian Journal of Psychiatry · 2025
    23. A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler Journal of Saidu Medical College Swat · 2025
    24. P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges Genetics in Medicine Open · 2025
    25. Biotinidase Enzyme Deficiency ( Case Report ) Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb · 2023
    26. A Rare Case of Biotinidase Deficiancy Journal of medical science and clinical research · 2021
    27. Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report Journal of Diabetic Association Medical College. · 2018
    28. Biotinidase Deficiency and Seizures Pediatric Neurology Briefs · 1987
    29. Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report Cureus · 2025
    30. Ocular aspects in biotinidase deficiency Clinical and genetic original studies Ophthalmic Paediatrics and Genetics · 1987 · 12 citations