Galactosemia (British Galactosaemia) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar, lactose, metabolizes to galactose, galactosemia is not related to and should not be confused with lactose intolerance. Galactosemia follows an autosomal recessive. mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.
Lactose in food (such as dairy products) is broken down by the enzyme lactase into glucose and galactose. In individuals with galactosemia, the enzymes needed for further metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose 1-phosphate in various tissues as in the case of classic galactosemia, resulting in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts, brain damage, and ovarian failure. Without treatment, mortality in infants with galactosemia is about 75%.Galactosemia is inherited in an autosomal recessive manner, meaning a child must inherit one defective gene from each parent to show the disease. Heterozygotes are carriers, because they inherit one normal gene and one defective gene. Carriers show no symptoms of galactosemia.
Galactosemia is a very serious condition. If lacotse or galactose is consumed it may cause permanent damage.It is usually diagnosed in infancy.
Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase (to break down milk sugars from dairy products), and experience abdominal pains, bloating, gas or diarrhoea after ingesting dairy products, but no long-term effects.
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