Deficiência de biotinidase : aspectos clínicos , diagnósticos e triagem neonatal

Biotinidase deficiency is a hereditary metabolic disease with varied phenotypic expression in which there is a defect in the metabolism of biotin. The symptoms of the classic form are often neurological and in the skin, with possible sequelae such as auditory and visual disorders, and motor development and language delay. These manifestations are usually irreversible, even after treatment, which is simple, of low cost, and based on the oral replacement of biotin, 5 to 20 mg/day, for a lifetime. The treatment, when started within the first months of life, prevents the appearance of the referred symptoms. The combined prevalence of the disease is variable, from 1:60 000 to 1:9000. Biotinidase deficiency meets the World Health Organization criteria for neonatal screening because carriers are asymptomatic during this period of life, the disease’s high morbidity rate, and effective treatment with low cost. The objective of this study is to review the national and international literature on relevant aspects of biotinidase deficiency.