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Galactosemia

Galactosemia. What is Galactosemia?. Galactosemia: “too much galactose in the blood”. When a person consumes dairy (which has lactose in it) the body will break it down into galactose and glucose) Common Galactosemia

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Galactosemia

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  1. Galactosemia

  2. What is Galactosemia? • Galactosemia: “too much galactose in the blood”. • When a person consumes dairy (which has lactose in it) the body will break it down into galactose and glucose) • Common Galactosemia • Individual is missing the enzyme GALT to convert galactose into glucose

  3. Types of Galactosemia • 1) Duarte Galactosemia • 1 classic Galactosemia gene and 1 Duarte gene • “D/G” • 25-50% of GALT enzyme activity • Controversy over whether they need diet restriction or not. • 2) Galaktokinase Deficiency (Type II Galactosemia) • Deficient in Galactokinase (GALK) enzyme. • Problems often mild, usually child cataract formation.

  4. Testing for Galactosemia • Prenatal diagnosis is available • Amniocentresis • Diagnosis is usually within the first week of life • Heel prick (standard newborn testing)

  5. Complications and Treatment • Up to 75% of infants will die from it. • If left untreated • Enlarged liver • Kidney failure • Cataracts • Brain damage • Learning disabilities • Speech trouble • Premature Ovarian Insufficiency (POI) • Under 40, ovaries not producing estrogen. • Treated with diet restriction

  6. Who Has Galactosemia? • The child with classic Galactosemia inherits the Galactosemia gene from both parents. • “(G/G)”

  7. Unacceptable Foods • Butter • Nonfat Milk • Milk • Nonfat Dry Milk • Buttermilk • Cream Milk • Chocolate • Cheese • Buttermilk Solids • Nonfat Dry Milk Solids • Milk Derivatives • Dried Cheese • Milk Solids • Lactose • Casein • Sour Cream • Dry Milk • Whey and Whey Solids • Dry Milk Protein • Yogurt • Organ Meats (liver, heart, kidney, brains, sweetbreads, pancrease) • Sodium Caseinate • Calcium Caseinate • Tragacanth Gum • Lactostearin • Lactalbumin • Dough Conditioners • Hydrolyzed Protein (canned meats) • Margarine • MSG (monosodium Glutamate) • Soy Sauce (fermented) *** Ingredient labels are key***

  8. Fruits, legumes, and Vegetables • Some fruits such as watermelon, papaya, and dates contain more than 10 mg Galactose/ 100 g of food and should be used in moderation. • Some vegetables such as tomatoes and bell peppers also contain 10 mg • Garbanzo bean, as well as some other legumes contain an unacceptable amount of Galactose.

  9. Baby Foods • Similac Soy • And other soy based formulas • Most Gerber, Beech-Nut, and Heinz baby foods • No dinner or yogurt based

  10. Possible Foods • Seeds and nuts • Milk-free cereals (cheerios) • Eggs • PB&J • Pasta (with oil) • Hamburgers • Milk-free breads

  11. Helpful Organizations • Galactosemia Foundation • http://galactosemia.org/ • Daily Strength • Galactosemia online support group • http://www.dailystrength.org/c/Galactosemia/support-group • Parents of Glactocemic Children Inc. • http://www.geneticalliance.org/organization/parents-galactosemic-children-inc

  12. References • Abbott nutrition. (2010, November). Understanding galactosemia: A diet guide. Retrieved from http://galactosemia.org/PDFs/UnderstandingGalactosemiaDietGuide3.pdf • Cozzo, T. (2008, August 15). Galactosemia food information cooperative. Retrieved from https://home.comcast.net/~tfcozzo/food/index.htm • State of Californiadepartmetof health services. (1997). Parents' guide to galactosemia. Retrieved from http://www.cdph.ca.gov/programs/nbs/Documents/NBS-ParentsGuideGalacPart21997.pdf • The galactosemia foundation. (2012). Understanding galactosemia . Retrieved from http://galactosemia.org/Understanding_Galactosemia.php

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