March 2023 in “Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb” This case report details a family in Iraq with biotin deficiency, highlighting improved outcomes in surviving children following diagnosis and lifelong biotin supplementation.
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.
21 citations
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June 2011 in “Journal of child neurology” This study found that while serum zinc levels were lower in children treated with valproic acid or carbamazepine than in healthy controls, zinc, biotin, and biotinidase enzyme activity remained within normal ranges and unaffected by these treatments.
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.
73 citations
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October 2001 in “Epilepsia” In this study, valproic acid treatment was associated with reduced biotinidase activity and improved skin lesions after biotin supplementation in children with seizures.