pediatrics
Galactosemia
Introduction
Galactosemia is a Overview of Carbohydrate Metabolism Disorders caused by inherited deficiencies in enzymes that convert galactose to glucose. Symptoms and signs include hepatic and renal dysfunction, cognitive deficits, cataracts, and premature ovarian failure. Diagnosis is by enzyme analysis of red blood cells and DNA analysis. Treatment is dietary elimination of galactose. Physical prognosis is good with treatment, but cognitive and performance parameters are often subnormal. Galactose is present in dairy products, fruits, and vegetables. Autosomal Recessive enzyme deficiencies cause 3 clinical syndromes. See also Approach to the Patient With a Suspected Inherited Disorder of Metabolism . 