What is Galactosemia Galactosemia too much galactose in

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What is Galactosemia? • Galactosemia: “too much galactose in the blood”. – When a

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

Types of Galactosemia • 1) Duarte Galactosemia – 1 classic Galactosemia gene and 1

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.

Testing for Galactosemia • Prenatal diagnosis is available – Amniocentresis • Diagnosis is usually

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

Complications and Treatment • Up to 75% of infants will die from it. •

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

Who Has Galactosemia? • The child with classic Galactosemia inherits the Galactosemia gene from

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

Unacceptable Foods • • • • Butter Nonfat Milk Nonfat Dry Milk Buttermilk Cream

Unacceptable Foods • • • • Butter Nonfat 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***

Fruits, legumes, and Vegetables • Some fruits such as watermelon, papaya, and dates contain

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.

Baby Foods • Similac Soy – And other soy based formulas • Most Gerber,

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

Possible Foods • • Seeds and nuts Milk-free cereals (cheerios) Eggs PB&J Pasta (with

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

Helpful Organizations • Galactosemia Foundation – http: //galactosemia. org/ • Daily Strength – Galactosemia

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

References • Abbott nutrition. (2010, November). Understanding galactosemia: A diet guide. Retrieved from http:

References • Abbott nutrition. (2010, November). Understanding galactosemia: A diet guide. Retrieved from http: //galactosemia. org/PDFs/Understanding. Galactosemia. Diet. Gui de 3. pdf • Cozzo, T. (2008, August 15). Galactosemia food information cooperative. Retrieved from https: //home. comcast. net/~tfcozzo/food/index. htm • State of California departmet of health services. (1997). Parents' guide to galactosemia. Retrieved from http: //www. cdph. ca. gov/programs/nbs/Documents/NBSParents. Guide. Galac. Part 21997. pdf • The galactosemia foundation. (2012). Understanding galactosemia. Retrieved from http: //galactosemia. org/Understanding_Galactosemia. php

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