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Galactosemia Galactosemia is a rare genetic metabolic disorder. Galactosemia was first discovered in 1908. Von Ruess, in a 1908

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Introduction

Galactosemia Galactosemia is a rare genetic metabolic disorder. Galactosemia was first discovered in 1908. Von Ruess, in a 1908 publication entitled, "Sugar Excretion in Infancy," reported on a breast-fed infant with failure to thrive, enlargement of the liver and spleen. This infant ceased to excrete galactose through the urine when milk products were removed from the diet. The infant, however, later died because of other complications (the baby had been given tea laced with cognac as treatment as well). An autopsy revealed cirrhosis of the liver, which they thought was due to the infant's alcohol ingestion. Though confirmation of the diagnosis was not possible at that time, it has been generally accepted that Von Ruess was the first to report on a patient with galactosemia. ...read more.

Middle

If a person only inherits one galactosemia gene then their enzyme activity will be low but it is not very harmful. However, when both galactosemia genes are present at birth their enzyme activity is zero. People who inherit one gene for galactosemia don't have many complications, but they are carriers of the disorder and even spread it to their children. Normally when a person consumes a product that contains lactose the body breaks the lactose down into galactose and glucose. Glucose is the sugar used by the body for energy. Galactosemia means too much galactose in the blood caused by the missing enzyme (known as GALT) to convert galactose into glucose. ...read more.

Conclusion

But some fruits contain small traces of galactose and may be harmful. Symptoms of galactosemia may be jaundice (yellowish discoloration of skin and the whiting of eyes), vomiting, poor weight gain, cataract (cloudy covering of the eye), lethargy, and even convulsions (seizures). Galactosemia stops it carriers fro m the activities of daily life. The people affected by the galactosemia may suffer retardation. Duarte galactosemia is a form of galactosemia that occurs when a child inherits a classic galactosemia gene and a Duarte galactosemia gene. Babies are able to be breastfed though, because Duarte galactosemia is a milder form of classic Galactosemia. Enzyme levels are usually between twenty-five and fifty percent. Patients with this type usually stay away from products that contain lactose, but then gradually try them so the doctors can see their response. Kelechi Ukoha November 23, 2005 Pre-ap Biology 6th ...read more.

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