TY - JOUR
T1 - Deficiencia de biotinidasa y malformación de anillo vascular. Reporte de un caso
AU - González-Salazar, Francisco
AU - Gabino Gerardo-Aviles, José
AU - Rodríguez Jacobo, Sofía
AU - Vargas-Camacho, Gerardo
N1 - Copyright:
Copyright 2015 Elsevier B.V., All rights reserved.
PY - 2014/10/1
Y1 - 2014/10/1
N2 - 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.
AB - 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.
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U2 - 10.1590/S0325-00752014000500018
DO - 10.1590/S0325-00752014000500018
M3 - Article
SN - 0325-0075
VL - 112
SP - e217-e221
JO - Archivos Argentinos de Pediatria
JF - Archivos Argentinos de Pediatria
IS - 5
ER -