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

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.  By 1917 galactosemia was recognized has a genetic disorder. Later on, the defective gene that caused galactosemia was found in 1956. It was made detectable by screening in  1963. The child with classic galactosemia inherits a gene for galactosemia from both parents, who are carriers. Patients who inherit the classic galactosemia gene from each parent are sometimes classified as having the genetic makeup of two galactosemia genes. 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. This accumulation of galactose is a poison to the body and can cause serious complications such as the following and if untreated, as high as seventy-five percent of infants will die from enlarged liver, kidney failure, and brain damage. Diagnosis of galactosemia is usually found out within the first week of life. The babies are put on a diet, which excludes lactose in any form. Galactosemia can cause the person speech disorders and even cause undeveloped ovaries in women. People who have the disorder have to stay away from products that contain lactase. Most fruits are acceptable to people who have the disorder. 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.