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September 1993 in “Archives of Disease in Childhood” This article discusses the importance of considering biotinidase deficiency in differential diagnosis for patients with certain neurological and dermatological symptoms, as timely treatment with biotin is crucial to prevent severe consequences.
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.
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November 2011 in “Turkish Journal of Dermatology” In this case report, a 6-year-old male with biotinidase deficiency experienced marked improvement in dermatological symptoms, including alopecia and periorificial lesions, following biotin treatment.
November 2025 in “Journal of Saidu Medical College Swat” In this case report, a 2.5-year-old boy with biotinidase deficiency, initially misdiagnosed due to overlapping symptoms, showed dramatic improvement in several clinical areas after starting biotin supplementation, but persistent sensorineural hearing loss underscored the importance of early diagnosis for preventing irreversible complications.
January 2018 in “Journal of Diabetic Association Medical College.” This case study reports a two and a half-month-old with biotinidase deficiency who showed rapid seizure improvement with biotin treatment after presenting with convulsions and neurological symptoms.