You must be a HealthShare member to report this post. 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. 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. 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.
You must be a Health Professional to answer this question. Log in or Sign up. Can drinking alcohol or smoking worsen my crohns disease? What is crohns disease? Learn More. New to HealthShare? Sign Up. Forgot your password? In order for the test to be accurate, babies must be drinking breast milk or formula for at least 24 hours.
If one parent has galactosemia, both parents can have genetic testing done to determine the risk of having a child with the disorder. Galactosemia is a lifelong condition that children will not outgrow.
However, galactosemia can be easily managed by following a galactose-free diet. Galactose is derived from the complex sugar, lactose, so any food containing lactose milk and milk products should be avoided as well.
The majority of fruits, vegetables, grains, breads, fats, and sugars are safe to eat as long as they contain little or no galactose. Product labels on packaged foods list the ingredients found in each product. Check labels carefully each time you shop, since ingredients can change without notice.
Common ingredients that do not contain lactose and are ok for children with galactosemia include:. Individuals with types 2 or 3 galactosemia may be able to eat small amounts of galactose.
These f oods contain 5—10mg of galactose in each gm serving:. For more information on the amount of lactose in foods visit the Parents of Children with Galactosemia website.
Researchers have begun to examine the long-term consequences of galactosemia. Research suggests that despite early diagnosis, there may still be developmental delays. IQ values may be normal, but children with galactosemia have been found to exhibit a range of learning problems including speech and language deficits and problems with visual perception and social adjustment.
This is not true of all children with galactosemia, but the fact that it occurs in some children highlights the importance of early diagnosis and strict dietary control. Galactosemia should not be confused with cow's milk allergy or lactose intolerance. Symptoms include fussiness, gassiness, and diarrhea. Lactose intolerance occurs when a person is unable to metabolize lactose, but can usually breakdown galactose.
Embed Size px. Start on. Show related SlideShares at end. WordPress Shortcode. Next SlideShares. Download Now Download to read offline and view in fullscreen. Download Now Download Download to read offline. Fikri Abdullah Zawawi Follow. What is galactosemia. Galactosa y Galactosemia. Galactosemia ppt. Galactosemia by Farshid Mokhberi. Class 9 galactose metabolism. Related Books Free with a 30 day trial from Scribd. Related Audiobooks Free with a 30 day trial from Scribd. Pawan Bhardwaj. M M Sojib.
Poorvi Yadav. Ngwa Edith , Student at University of Buea. John David. Bassam Hisham. Agbo okwudirichukwu , Student at Ebonyi state university. Kadir Shohan. Anum Nazir.
0コメント