Describe the causes, symptoms and incidence of galactosemia
Classical galactosemia is an enzyme defect in galactose metabolism leading to failure to thrive, hepatomegaly (enlarged liver), and life-threatening sepsis in the newborn period. Vomiting and jaundice may develop as early as a few days after milk feedings are begun. Anorexia, failure to gain weight or to grow, or even weight loss ensues. In the absence of treatment, parenchymal damage to the liver leads to the development of cirrhosis. Patients may present with edema, ascites, bleeding problems, and an enlarged spleen. Because galactose is a monosaccharide found in milk products, the disease may be rapidly fatal if milk feedings are continued. Other complications associated with the continued ingestion of galactose include cataract formation, mental retardation, and renal tubular dysfunction. All states now screen for galactosemia in the newborn period before symptoms are present or complications of the disease have taken place. Galactosemia has been reported to occur in approximately one in every 60,000–80,000 births in the United States.
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