31 citations
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December 1997 in “Developmental Medicine & Child Neurology” This case report describes a 5-year-old girl with biotinidase deficiency who had acute visual loss and gait disturbance but no typical symptoms, responding well to biotin therapy.
72 citations
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October 1988 in “Archives of Disease in Childhood” This study found that while biotin treatment improves clinical and biochemical symptoms in patients with biotinidase deficiency, some experience lasting neurological damage, and it is uncertain if early treatment can prevent this.
184 citations
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August 1983 in “The journal of pediatrics/The Journal of pediatrics” In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.
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.