Failuref of the biotinidase enzyme
Abstract
Biotinidase deficiency is one of the metabolic disorders caused by congenital enzyme deficiency, a reduction in the body's biotype and the development of a number of symptoms in the lactation period (hypotonia, weakness, myoclonic irritation, alopecia, physical and mental retardation, eczema-shaped streaks)as it evolves. The characteristic feature of biotinidase deficiency is that clinical symptoms begin to diminish as soon as the biotin enters the body.Therefore, these symptoms should be considered in children and screening should be performed on children with developmental delays.
References
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Keywords
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