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    Biotinidase Deficiency

    Biotinidase deficiency is an autosomal recessive disorder that results from the defective activity of the biotinidase enzyme. Newborns are asymptomatic. If an infant is not screened and/or left untreated, symptoms begin to appear later in infancy and
    can include seizures, developmental delay, facial rash, ataxia, and progressive vision and hearing loss.  Affected children require life-long treatment with oral biotin and monitoring by both primary care and speciality providers.
    Incidence: ~ 1/50,000; affects all ethnic groups
    Diagnosis: If biotinidase is low on 2 newborn screens, or absent on the first screen, the diagnosis should be confirmed with biotinidase enzyme activity at a specialized biochemical laboratory. A metabolic geneticist will assist with this testing.
    Treatment: If biotinidase deficiency is confirmed, life-long treatment with biotin is indicated and the infant should be followed yearly by a metabolic geneticist.
    Raw eggs should be avoided because they contain avidin, an egg-white protein that binds biotin, thus decreasing its bioavailability. (Thoroughly cooked eggs present no problem because heating inactivates avidin, making it incapable of binding biotin.)
    False Positives: premature infants, extreme heat and other environmental factors.
    *** Result is invalid if the baby has been transfused.