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.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
101 citations
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July 1985 in “Journal of the American Academy of Dermatology” Biotin improved hair growth and combability in one child with uncombable hair syndrome.
89 citations
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January 2020 in “PubMed” Biotinidase deficiency (BTD) was a metabolic disorder that, if untreated, could lead to severe neurological and dermatological symptoms such as seizures, developmental delays, alopecia, and skin rashes. The disorder was caused by genetic mutations in the BTD gene, with over 200 mutations identified. The severity of symptoms depended on the level of enzyme activity, with profound deficiency classified as less than 10% of normal serum activity. Early detection through newborn screening and treatment with oral biotin significantly improved outcomes, preventing severe manifestations and increasing asymptomatic cases. However, some symptoms, like auditory and visual defects, could persist despite treatment. Newborn screening programs, initiated in 1984, were crucial for early detection and management, although long-term natural history data was limited.
89 citations
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October 2003 in “Biology of the Cell” Galectin-1 helps in RNA processing in cell nuclei.