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.
12 citations
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January 1987 in “Ophthalmic Paediatrics and Genetics” This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.
September 2009 in “European journal of paediatric neurology” Biotin supplements did not significantly reduce hair loss in rats on valproic acid.
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.
June 1987 in “Pediatric Neurology Briefs” This report describes a case of a 5-year-old boy with acute somnolence, alopecia, keratoconjunctivitis, and perioral stomatitis linked to lactic acidaemia.