[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: Francisco González-Salazar, José Gabino Gerardo-Aviles, Sofía Rodríguez Jacobo, Gerardo Vargas-Camacho
• Journal: Archivos argentinos de pediatria (Arch Argent Pediatr) Vol. 112 Issue 5 Pg. e217-21 (Oct 2014) ISSN: 1668-3501 [Electronic] Argentina
• Vernacular Title: Deficiencia de biotinidasa y malformación de anillo vascular: reporte de un caso.
• PMID: 25192539 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Aorta, Thoracic (abnormalities)
• Biotinidase Deficiency (complications)
• Esophagus
• Female
• Humans
• Infant
• Subclavian Artery (abnormalities)