TLDR Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
A 2-month-old male infant with biotinidase deficiency, born to consanguineous parents, presented with seizures, alopecia, and other symptoms. Despite an uneventful perinatal period and no family history of seizures, the infant exhibited failure to thrive, skin rashes, and neurological issues. Biotinidase deficiency was suspected and treated with oral biotin, leading to rapid improvement in symptoms, including seizures, within 48 hours. Serum tests confirmed a profound deficiency, and ongoing biotin supplementation was advised. By 10 months, the child was thriving, developmentally normal, and seizure-free, with resolved skin and hair issues.
72 citations
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October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
184 citations
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August 1983 in “The journal of pediatrics/The Journal of pediatrics” Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
134 citations
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December 2018 in “Dermatology and Therapy” Some vitamins and minerals like vitamin D and iron can help with certain types of hair loss, but more research is needed for others.
3 citations
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June 2023 in “Medicines” Some antiseizure medications can cause reversible hair loss, with valproate, lamotrigine, and carbamazepine being the most common.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
