Biotinidase Deficiency by Variant c.281G>T p. (Gly94Val): Report of a Case
Abstract: Biotinidase deficiency (BTD) is a rare autosomal recessive disease associated with a mutation in the BTD gene. Clinically it manifests as a neurocutaneous syndrome, sometimes associated with respiratory and immunological disorders. Timely identification of this inborn error of metabolism (IEM) remains a major challenge due to its variable clinical presentation. Early diagnosis can improve the patient's prognosis and decrease morbidity and mortality. We describe the case of a patient with BTD with partial enzyme deficiency, with severe clinical manifestations.
Keywords: BTD Deficiency, Multiple Carboxylase Deficiency, Biotinidase Deficiency, Biotinidase, Biotin
How to Cite?: Diana Moreno, Mar?a Vittorino, Adolfo Alvarez, "Biotinidase Deficiency by Variant c.281G>T p. (Gly94Val): Report of a Case", Volume 12 Issue 7, July 2023, International Journal of Science and Research (IJSR), Pages: 476-479, https://www.ijsr.net/getabstract.php?paperid=SR23706080013, DOI: https://dx.doi.org/10.21275/SR23706080013