Brittany Taylor, RD, LDN Metabolic Dietitian Duke Pediatrics- Genetics NUTRITION IN POMPE DISEASE

 Decrease glycogen deposition in the lysosomes  Increase amino acid utilization  Maximize overall nutritional health  Meet macro and micronutrient requirements (DRI’s) to provide optimal nutrition NUTRITION GOALS FOR POMPE DISEASE Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guidelines. Genet Med 2006; 8:

 Weight Loss  Modify food/beverage consistency  Formula supplements  Tube feedings  Small, frequent meals  Weight Gain  Decreased activity  Calorie requirements may be decreased  High protein diet NUTRITION ISSUES IN POMPE

 Osteoporosis  Chronic limited mobility and weakness  Poor nutrition  Not well understood in Pompe  Optimize nutrition for bone health  Meet calcium and vitamin D requirements  May require additional supplementation  Citracal, Viactiv, Caltrate  Vitamin D supplementation, monitoring blood levels NUTRITION ISSUES IN POMPE

 Slonim AE, Bulone L, Slonim E, Goldberg T, MinikesJ, Galanko J, Martiniuk F. AdultAcid Maltase Deficiency: Modification of natural history by Nutrition & Exercise Therapy. Muscle and Nerve 2007; 35:  34 patients treated with nutrition and exercise therapy (NET) for periods of 2-10 years  High protein, low carbohydrate diet with L-Alanine supplementation  Aerobic exercise  Concluded NET compliance can slow deterioration of muscle function, improve natural history of adult-onset Pompe Disease THE ROLE OF A HIGH PROTEIN DIET

DIET RECOMMENDATIONS ProteinCarbohydrateFat 25-30% of total calories Decrease muscle turnover Alternative source of energy to replace carbohydrate Protein supplements (whey) 30-35% of total calories Reduce glycogen storage in muscle Encourage complex carbohydrates vs Simple Sugars 35-40% of total calories Alternative source of energy to replace carbohydrate Limit sources of saturated and trans fats Choose foods high in mono- and polyunsaturated fats

Lean Meats Fish Eggs Nuts, nut butters and seeds Beans Dairy: milk, yogurt, cheeses SOURCES OF PROTEIN

 100% whey protein powders (little to no carbohydrate)  Unjury  Beneprotein  GNC  High protein, low carbohydrate snacks**  Atkins, South Beach shakes, bars, snacks  Advantedge bars and shakes  PureProtein or Premier Protein powders, shakes and bars  ThinkThin bars ** some of these products contain sugar alcohols SOURCES OF PROTEIN

 Complex Carbohydrates  Rich in fiber, vitamins and minerals  Take longer time to digest  Important in the absorption of certain minerals and the formation of fatty acids COMPLEX CARBOHYDRATES VS SIMPLE SUGARS Vegetables Spinach Broccoli Yams Beans* Zucchini Lentils Skim Milk Whole Grains Brown and wild rice Oatmeal Corn Whole wheat breads and pastas Quinoa* * High in protein

 Often provide little nutritional value to the body  Digested by the body quickly  Source of simple sugars  White flour  Honey  Candy  Chocolate  Fruit juice  Cake  Jam  Soda  Packaged cereal SIMPLE SUGARS

FATS  Decrease saturated and trans- fats  Beef, poultry fat  Dairy fat  Butter  Cheese  Ice cream  Increase poly- and monounsaturated fats  Olive oil  Avocados  Nuts  Fatty fish  Seeds

EXAMPLE MENU Food/PortionGrams of Protein Grams of Carbohydrate Grams of Fat Breakfast 2 eggs, scrambled 2 slices canadian bacon 1 whole wheat english muffin 1 Tbsp margarine 1 cup low fat milk (1%) Snack Whole wheat saltine crackers (5) 1 Tbsp natural peanut butter (low sugar)

Food/PortionGrams of Protein Grams of Carbohydrate Grams of Fat Lunch Turkey sandwhich on whole wheat bread (3 slices oven-roasted turkey, 1 slice tomato, 1 Tbsp mustard and 1 leaf lettuce) 1 oz roasted almonds (low salt) 5 oz Greek yogurt 1 cup unsweetened iced tea Snack High Protein, low carbohydrate shake 1 medium apple EXAMPLE MENU

Food/PortionGrams of Protein Grams of Carbohydrate Grams of Fat Dinner 4 oz boneless/skinless chicken breast, baked with sliced peppers, onions and olive oil 1 whole wheat dinner roll with butter 1/3 cup brown rice ½ cup baked beans 1 cup low-fat milk (1%) EXAMPLE MENU

TOTAL:ProteinCarbohydrateFat 2234 calories 160 grams 640 calories 29% 178 grams 712 calories 32% 98 grams 882 calories 39% TOTALS

Brittany Taylor, RD, LDN Metabolic Dietitian Duke University Medical Center Division of Medical Genetics (office) (fax) FOR MORE INFORMATION