title: [Biotinidase deficiency and vascular ring malformation: case report].
abstract: Biotinidase deficiency is an autosomal recessive metabolic disorder that affects the cleavage of biotin. Family studies of the index case found that both parents are usually carriers and siblings have the altered gene, but only homozygotes have manifestations that vary depending on the deficiency grade. Mothers may have moderate deficiency and be asymptomatic; biotin deficiency in pregnant women causes defects in children. In a study, using human cells exposed to biotin deficiency, cell growth decreased contributing to the development of cleft palate. In newborns, biotinidase deficiency has been associated with VACTERL syndrome and annular pancreas. The case of an infant with biotinidase deficiency and congenital defect of the vascular ring is presented. This defect surrounds and compresses the trachea and esophagus, disturbing swallowing and breathing. Infant was supplemented with biotin and surgically intervened with excellent results.
authors.affiliation: Departamento de Ciencias Básicas, División de Ciencias de la Salud, Universidad de Monterrey, Monterrey, México.
authors.forename: Francisco
authors.initials: F
authors.lastname: González-Salazar
authors.affiliation: Departamento de Ciencias Básicas, División de Ciencias de la Salud, Universidad de Monterrey, Monterrey, México.
authors.forename: José
authors.initials: J
authors.lastname: Gabino Gerardo-Aviles
authors.affiliation: Departamento de Ciencias Básicas, División de Ciencias de la Salud, Universidad de Monterrey, Monterrey, México.
authors.forename: Sofía
authors.initials: S
authors.lastname: Rodríguez Jacobo
authors.affiliation: Unidad Médica de Alta Especialidad #34, IMSS, México.
authors.forename: Gerardo
authors.initials: G
authors.lastname: Vargas-Camacho
mesh_terms: D001013:Aorta, Thoracic / Q000002:abnormalities*; D028921:Biotinidase Deficiency / Q000150:complications*; D004947:Esophagus; D005260:Female; D006801:Humans; D007223:Infant; D013348:Subclavian Artery / Q000002:abnormalities*