A COMPREHENSIVE REVIEW ON GALACTOSEMIA

Abstract

Galactosemia is a rare inherited metabolic disorder in which the body is unable to properly metabolize galactose.  The disease is divided into three categories depending on the enzyme involved., classic galactosemia (galactose-1-phosphate uridylyltransferase deficiency, GALT), galactokinase deficiency (GALK), and uridine diphosphate galactose-4-epimerase deficiency (GALE). The symptoms of galactosemia start shortly after regular feeding with milk  these include feeding intolerance (vomit and diarrhea), liver failure (rare) leading to jaundice, bleeding symptoms, hypoalbuminemia and hypoglycemia,  kidney failure  congenital bilateral cataracts, and alternatively, fatal gram-negative sepsis, principally Escherichia coli. Galactosemia is a genetic disorder that can be diagnosed at birth even if the symptoms are not present with screening of newborns by assessing the GALT enzyme activity and level of galactose. Children with galactosemia may experience speech delay, learning difficulties and poor motor coordination. The primary treatment for galactosemia is lifelong restriction of lactose and galactose from the diet. Dairy products, breast milk, and lactose containing. formulas must be avoided immediately after diagnosis. Continuous medical monitoring, nutritional support, and rehabilitative therapies are therefore essential for improving quality of life.