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PREVALENCE, EPIDEMIOLOGY AND CLINICAL STUDY OF GALACTOSEMIA

Uzma Saleem, Mahmood S., Kamran S.H, Mutt M.A, Ahmad B

Galactosemia is an autosomal carbohydrate metabolic disorder caused by the deficiency of galactose 1-phosphate uridyltransferase (GALT). Frequency of occurrence of this disorder varies, more common in Irish population and very less in Asians. There are three types of galactosemia but GALT is most common. The prominent sign and symptoms include hypoglycemia, hepatomegaly, ascities, jaundice, poor feeding and vomiting. Cataracts, premature ovarian failure, decreases in bone mineral density, mental retardation are few of the long term complications. Symptoms appear within first few days of galactosemic infants. Strict dietary control (i.e. galactose free diet) can prevent acute toxicity but it does not guarantee the prevention of long term complications. The only treatment is complete elimination of galactose/lactose free diet and calcium supplements are used as supportive therapy.