29 citations
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July 1996 in “Acta Paediatrica” This study found that an 11-month-old Japanese infant developed biotin deficiency while on a Japanese amino acid formula without biotin, which was resolved with biotin supplementation.
August 2021 in “Journal of medical science and clinical research” This case report describes an 11-month-old infant with Biotinidase deficiency who exhibited multifocal seizures, neuroregression, alopecia, and skin issues, highlighting prompt diagnosis and the dramatic clinical response to biotin treatment.
74 citations
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July 1979 in “Lancet” This case report describes a 10-month-old boy with dermatitis, alopecia, and hypotonia who showed dramatic improvement with oral biotin, suggesting a possible defect in biotin absorption or transport.
12 citations
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September 2011 in “BMJ Case Reports” This case report describes a 2-month-old male with biotinidase deficiency whose seizures and skin symptoms improved dramatically with oral biotin supplementation.
55 citations
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December 1987 in “Archives of Dermatology” This review discusses two genetic disorders affecting biotin metabolism, each resulting in distinctive skin and hair manifestations, and outlines the associated serious metabolic complications.