86 citations
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January 1990 in “The Journal of Pediatrics” This study suggests that biotin therapy may be beneficial for individuals with partial biotinidase deficiency, as some developed symptoms later, which resolved with treatment.
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.
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.
89 citations
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January 2020 in “PubMed” This review discusses biotinidase deficiency, noting that biotin treatment from birth can prevent symptoms, but acknowledges the complexity and need for further understanding due to late-onset cases with varied clinical findings.
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.