Biotinidase Deficiency by Variant c.281G>T p. (Gly94Val): Report of a Case

Diana Moreno, Mar?a Vittorino, Adolfo Alvarez

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