Abstract:Galactosemia is an inborn error of metabolism, caused by autosomal recessive deficiency in enzymes that convert galactose to glucose. Excess galactose is converted in the liver to galactitol (alcohol of elevated toxicity), responsible for neurologic, hepatic, gastrointestinal manifestations, in varying degrees according to the mutation developed. OBJECTIVE: To observe the prevalence of galactosemia in patients with DM1 and DM2. METHODS: Group 1: patients with DM2, male gender (n=9); female gender (n=11). Group… Show more
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