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Case Studies | Pediatrics | Colombia | Volume 12 Issue 7, July 2023 | Popularity: 4.6 / 10
Biotinidase Deficiency by Variant c.281G>T p. (Gly94Val): Report of a Case
Diana Moreno, Mara 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
Edition: Volume 12 Issue 7, July 2023
Pages: 476 - 479
DOI: https://www.doi.org/10.21275/SR23706080013
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