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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 30 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
    11. Possible involvement of partial biotinidase deficiency in alopecia areata Journal of the European Academy of Dermatology and Venereology · 1996 · 6 citations
    12. Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency Clinical and experimental dermatology · 2019 · 4 citations
    13. Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient Molecular genetics & genomic medicine · 2021 · 3 citations
    14. Biotinidase Deficiency Accompanying Hair Changes and Periorificial Lesions: A Case Report Turkish Journal of Dermatology · 2011 · 1 citations
    15. Possible involvement of partial biotinidase deficiency in alopecia areata Journal of the European Academy of Dermatology and Venereology · 1996 · 1 citations
    16. A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler Journal of Saidu Medical College Swat · 2025
    17. P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges Genetics in Medicine Open · 2025
    18. A Rare Case of Biotinidase Deficiancy Journal of medical science and clinical research · 2021
    19. Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report Journal of Diabetic Association Medical College. · 2018
    20. Biotinidase Deficiency and Seizures Pediatric Neurology Briefs · 1987
    21. Biotinidase Enzyme Deficiency ( Case Report ) Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb · 2023
    22. Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report Cureus · 2025
    23. Ocular aspects in biotinidase deficiency Clinical and genetic original studies Ophthalmic Paediatrics and Genetics · 1987 · 12 citations
    24. Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency OPAL (Open@LaTrobe) (La Trobe University) · 2016 · 2 citations
    25. Biotin Deficiency in an Infant Fed with Amino Acid Formula The Journal of Dermatology · 2005 · 43 citations
    26. Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice Acta Paediatrica · 1996 · 29 citations
    27. Low Serum Biotinidase Activity in Children with Valproic Acid Monotherapy Epilepsia · 2001 · 73 citations
    28. Rethinking biotin therapy for hair, nail, and skin disorders Journal of the American Academy of Dermatology · 2018 · 57 citations
    29. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    30. Chicken scratches. Archives of Disease in Childhood · 1993 · 1 citations