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galactosemia - Definition: (Source: MedicineNet)

Galactosemia: A genetic metabolic disease in which there is a defect in the body's ability to use the sugar galactose. In classic galactosemia, the basic defect is a deficiency of the enzyme known as GALT (galactose-1-phosphate uridyl transferase). This causes an accumulation of galactose 1-phosphate which damages the liver, eye, brain and kidney. Galactosemia is one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can be treated by avoiding galactose in the diet. ...
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galactosemia - Images (Source: MedLinePlus)
Galactosemia
Galactosemia

Causes of galactosemia (Source: MedLinePlus)
Galactosemia is an inherited enzyme disorder (transmitted as an autosomal recessive trait). It occurs in approximately 1 out of every 60,000 births among Caucasians, while the rate is different for other groups. There are 3 forms of the disease: galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most common and most severe form), deficiency of galactose kinase, and deficiency of galactose-6-phosphate epimerase. People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk. Lactose is called a disaccharide (di meaning 2 and saccharide meaning sugar) because it is made up of two sugars, galactose and glucose, bound together. If an infant with galactosemia is given milk, derivatives of galactose build up in the infant's system, causing damage to the liver, brain, kidneys, and eyes. Individuals with galactosemia cannot tolerate any form of milk (human or animal) and must carefully watch intake of other galactose-containing foods. Exposure to milk products may result in liver damage, mental retardation, cataract formation, and kidney failure. After drinking milk for a few days, a newborn with galactosemia will refuse to eat and develop jaundice , vomiting, lethargy , irritability , and convulsions . The liver will be enlarged and the blood sugar may be low. Continued feeding of milk products to the infant leads to cirrhosis of the liver, cataract formation in the eye (whi ...
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HealthAtoZ galactosemia

Symptoms of galactosemia (Source: MedLinePlus)
Jaundice (yellowish discoloration of the skin and the whites of the eyes) ; Vomiting ; Poor feeding (baby refusing to drink milk-containing formula) ; Poor weight gain ; Lethargy ; Irritability ; Convulsions. ...
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HealthAtoZ galactosemia

Further Reading on galactosemia
  • Galactosemia Test ( WebMD )
    A galactosemia test is a blood or urine test that checks for three enzymes that are needed to change galactose, a sugar that is...A galactosemia test is a blood or urine test that checks for three...
  • The NIDDK on Hypoglycemia ( WebMD )
    WebMD provides information on a problem common to all diabetics at some time - low blood sugar ...are treated by giving glucose and eliminating fructose from the diet. Galactosemia , a rare genetic...

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