Nutrition management of inherited disorders of metabolism

1. Nutrition management of inherited disorders of metabolism Lauren Dodd, MA, RD, LD

2. INHERITED DISORDERS OF METABOLISM • Caused by a gene defect that leads to a defective or missing enzyme or transporter • Many are autosomal recessive • Parents who are carriers of the same defective gene have a one in four chance of having a child affected by the disorder • Hundreds of metabolic disorders are known • Long term consequences are still unidentified in many cases • Definitive diagnosis takes time

3. NEWBORN SCREENING • Identifies infants who have inherited disorders of metabolism that may cause physical problems, mental retardation and/or death • Expanded newborn screening began in 2004 in Alabama • Alabama now screens for 29 disorders as recommended by the March of Dimes

4. TREATMENT GOALS • Utilize medical foods (formula and specialized foods) to prevent catabolism • Reduce or eliminate nutrients that can result in toxic substrates • Provide alternative metabolic pathways to blocked reactions • Supply substrates that are otherwise blocked in the reaction • Supplement “conditionally essential” nutrients • Stabilize altered enzymes • Provide missing cofactors • Provide nutrients that may be poorly absorbed or non-functional

5. NUTRITION SUPPORT PROTOCOLS • ROSS Metabolics 2006 • Description and Overview of Disorder • Recommended Nutrient Intakes • Laboratory Standards • Sample Diet Prescriptions • Food Lists

6. MOST COMMON INHERITED DISORDERS OF METABOLISM • Protein • Phenylketonuria (PKU) • Hyperphenylalanemia (Hyperphe) • Maple Syrup Urine Disease (MSUD) • Urea Cycle Disorders (UCD) • ArgininosuccinicAciduria • Citrullinemia • Organic Acidemias • Glutaric Acidemia (GA) • Propionic Acidemia (PA) • Methylmalonic Acidemia (MMA) • Carbohydrate • Galactosemia • Glycogen Storage Disease (GSD), 10 Types • Fats • Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) • Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

7. FATTY ACID OXIDATION DISORDERS • Body is deficient in the enzyme necessary to break down fats • Failure to breakdown fats can lead to accumulation of fatty acids in the liver and brain • MCADD is most common • Symptoms include hypoglycemia, lethargy, increased liver enzymes, hypotonia and retinopathy • Treatment = avoid fasting, high complex carbohydrate diet, supplement carnitine, cornstarch after 6 months of age

8. MCADD • The body is unable to convert certain fats to energy, particularly during periods without food (fasting). • Treatment: • Frequent meals and snacks • Complex carbohydrate source before and after vigorous physical activity • IV fluids when sick and unable to eat/drink • Cornstarch beverage at night and during periods of illness

9. GALACTOSEMIA • Affects how the body processes galactose • Simple sugar • Galactose + Glucose = Lactose • Occurs in 1 of 30,000 – 60,000 newborns • Potential Complications: • Lethargy • Failure to Thrive • Liver Damage • Delayed Development • Cataracts • Speech Delays • Intellectual Disability • Ovarian Failure

10. GALACTOSEMIA Foods containing galactose: • 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, pancreas) • Sodium Caseinate • Calcium Caseinate • Tragacanth Gum • Lactostearin • Lactalbumin • Dough Conditioners • Hydrolyzed Protein • Margarine • MSG (Monosodium Glutamate) • Soy Sauce

11. GALACTOSEMIA DIET Abbott Nutrition, Understanding Galactosemia, A Diet Guide, 2010

12. GALACTOSEMIA DIET Abbott Nutrition, Understanding Galactosemia, A Diet Guide, 2010

13. PHENYLKETONURIA • Deficiency of the enzyme phenylalanine hydroxylase (PAH) • High phenylalanine levels are toxic to the brain • Mental retardation can result if untreated • Incidence is 1 in 10,000 – 15,000 • Average of 3 – 4 new diagnoses each year

14. DIAGNOSIS OF PKU • Newborn screen identifies infants with elevated phenylalanine (PHE) levels within the first 2 weeks of life • Plasma Amino Acid profile confirms diagnosis • Treatment is initiated immediately

15. MANAGEMENT OF PKU • Treatment is primarily dietary • DIET FOR LIFE! • Restriction of foods containing PHE • Low protein diet is supplemented with phenylalanine free formulas and low protein foods • Protein malnutrition may result if a low protein diet is followed without consuming metabolic formula. • Treatment goals: • Maintain blood phe levels 2 – 6 mg/dL • Support growth

16. HIGH PHE FOODS • Meat, Fish, Poultry • Dairy Products • Beans, Nuts, Eggs • Starchy Vegetables • Potatoes • Peas • Bread, Rice, Pasta • Whole Grains

17. SAMPLE MENU • Breakfast • ½ cup Kix Cereal 40 mg • Non dairy creamer 0 mg • ½ cup blueberries 18 mg • Formula • Lunch • Low Protein Fusilli, 1 cup dry 19 mg • Hunt’s Marinara, ½ cup 39 mg • Popsicle 0 mg • ½ cup canned peaches 17 mg • Afternoon Snack • 10 Goldfish Crackers 18 mg • ½ oz Raisins 9 mg • 4 oz Apple Juice • Supper • ½ cup Broccoli with margarine 33 mg • ½ Banana 22 mg • 9 French Fries 66 mg • ½ cup Green Beans 34 mg • Formula • TOTAL PHE = 315 mgPHE

18. MAPLE SYRUP URINE DISEASE • Inability to utilize essential amino acids • Leucine • Isoleucine • Valine • Occurs in ~1:85,000 births • Typically presents within 1st week of life • Late diagnosis may lead to neurological insults and developmental delays • Elevated amino acids give urine sweat and earwax the odor of maple syrup

19. UREA CYCLE DISORDERS • Treatment and Long-Term Prognosis • Low Protein, High Calorie Diet • Additional medications may be necessary to decrease ammonia • No cure, outcome depends on type and severity • Noncompliance with diet may result in frequent illness/hospitalizations and irreversible brain damage • Liver transplant may be considered as a treatment option • Must comply with transplant team reqirments

20. SCHOOL LUNCH • Typical Menu

21. SCHOOL LUNCH • Typical Menu, Eliminate High PHE Foods

22. SCHOOL LUNCH • Typical Menu, Added Fruits and Vegetables

23. SCHOOL LUNCH • Typical Menu, Low Protein Pasta

24. SCHOOL LUNCH • Recording Intake is a MEDICAL NECESSITY. • Parents NEED this information to calculate remaining PHE for the day to serve an appropriate evening meal. • Food • Preparation Method • Amount Consumed

25. SCHOOL LUNCH • Suggested Methods of Recording Intake: • Pictures • Menus • Who Should Record Intake? • Teacher • Cafeteria Manager • School Nurse • Student

26. SCHOOL LUNCH • Every Diet Prescription is Specific to the Patient • School Diet Prescription • Sample Menus • Foods to Avoid & Appropriate Substitutions • Food Lists • Challenges • Food Preferences • Inadequate Food & Calories • Family Expectations • Reheating Home Prepared Foods • Recording Intake

27. WORKING WITH FAMILIES • Consider the child first, then the diagnosis • Promote family adaptation and development • Pay attention to social, financial, developmental and education issues • Assist families in identifying and utilizing community resources • Medical Facilities • State Laboratories • Health Department • Insurance, Medicaid, WIC • Early Intervention • Children’s Rehabilitation Services

28. UAB Biochemical Genetics Clinic • Call us! We will be happy to help! • We need a Medical Release of Information (ROI) form to discuss a specific patient • We can discuss a diet information specific to a disorder without a ROI • Lauren Dodd, MA, RD, LD • (205) 934 – 6924 • Suzie Geerts, MS, RD, LD • (205) 934 – 1064

29. QUESTIONS ?