Article
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
BMC medical genetics - 1 Sept 2014
Borsatto Taciane, Sperb-Ludwig Fernanda, Pinto Louise L C, Luca Gisele R De, Carvalho Francisca L, Souza Carolina F M De, Medeiros Paula F V De, Lourenço Charles M, Lo Filho Reinaldo, Neto Eurico C, Bernardi Pricila, Leistner-Segal Sandra, Schwartz Ida V
Abstract excerpt
BACKGROUND: Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the level of enzyme activity. Biotinidase activity, however, may be artifactually low due to enzyme lability, premature birth, and jaundice; this hinders both phenotypic classification and the decision to implement therapy. This study sought to characterize the clinical and genetic profile of a...
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