PKU NUTRITION AND PREGNANCY. Kathryn Moseley, MS, RD, USC/Keck School of Medicine, Los Angeles
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1 PKU NUTRITION AND PREGNANCY Kathryn Moseley, MS, RD, USC/Keck School of Medicine, Los Angeles
2 Diet: Three Key Elements Enough protein (formula) Sufficient weight gain Not too much phenylalanine
3 Protein Protein Formula is custom-made protein for PKU Too little protein causes catabolism which increases phenylalanine levels MPKUCS First trimester protein intake correlates to birth measurements Protein intake related to microcephaly and heart defects
4 Protein and calorie content of PKU medical food products Product Amount Protein Calories Nutricia Periflex Advance 200g 70g 770 Periflex LQ (250ml) 5 pouches 75g 800 Phenylade Essentials 7 pouch/scoop 70g 1099 Phenylade GMP 7 pouch/scoop 70g 924 Phenylade 40 7 pouch/scoop 70g 581 Phenylade 60 7 pouch/scoop 70g 343 X Phe Maxamum 175g 70g 534 PKU Lophlex LQ 4 pouch 80g 240 Lophlex powder 7 sachet 70g 287 Milupa PKU 3 103g
5 Protein and calorie content of PKU medical food products Product Amount Protein Calories Vitaflo PKU Express 15 u 5 pkts 75g 370 PKU Cooler 10 7 pouch 70g 434 Cambrooke Glytactin RTD 10 7 pouch 70g 1071 Glytactin Bettermilk 15u 5 pkt 75g 800 Glytactin Bettermilk 15f 5 pkt 75g 1000 Glytactin Swirl 5 pkt 75g 1500 Camino Pro 15 5 pouch 75g 700
6 Protein and calorie content of PKU medical food products Product Amount Protein Calories Abbott Phenex 2 233g 70g 955 Mead Johnson Phenyl Free 2 318g 70g 1304 Phenyl Free 2HP 175g 70g 683
7 Kuvan : The First Pharmaceutical Treatment for Phenylketonuria Efficacy and Safety Kuvan (sapropterin dihydrochloride) Tablets
8 Kuvan Classified as Pregnancy Category C by the FDA, indicated by animal reporduction studies showing an adverse effect on the fetus at 600mg/kg. 30 times the recommended dose There are no adequate controlled studies in humans Women exposed to Kuvan are encouraged to enroll in the patient registry
9 Energy Intake Inadequate energy intake (calories) associated with: High maternal blood phe Poor maternal weight gain Low birth length and weight Microcephaly (small head size)
10 Weight Gain 25 to 35 pounds recommended 3 to 4 pounds in first trimester 10 pounds in second trimester A pound a week in third trimester As weight increases, so does phenylalanine tolerance Better weight gain; better outcome
11 Relationship of Weight Gain to Microcephaly Microcephaly (%) <70 % (<21 lb) % (21-40 lb) >134 % (>40 lb) % of Recommended Weight Gain
12 Maternal PKU Study Revisited Congenital Heart Defects 28 pregnancies resulted in babies with CHD Low levels of folate and other amino acids ie low protein intake All mothers who gave birth to babies with CHD had low methonine levels Methonine contributes to global DNA methylation which may affect embryonal organ development Low folate may also contribute to hypomethylation
13 Nutrition: Weight and Fat Intake Fat Intake Fat is needed for brain growth (myelin, phospholipids) MPKUCS - low fat intakes associated with low birth measurements and poorer intellectual development MPKUCS and RM study- fat intake below recommendation RM Study: intake was 25% of energy as compared to the recommended 35%
14 The importance of fat intake Needed for brain growth DHA supplemention
15 LCPUFAs in Infant Development In utero-preferential transfer of DHA and ARA via the placenta to the fetus. This occurs at an accelerated rate during the last trimester and first 18 months of postnatal life Cerebral Cortex is 22% phospholipid and the white matter of the brains 24% phospholipid % of this phospholipid is DHA. The retina is highest in DHA concentration than any other organ DHA in Infant (term and preterm) fore brain up to 2 years of age (martinez,m) µmol/forebrain weeks from conception
16 DHA, FA deficiencies Early studies on lipids in PKU brains Perixosomal disorders (Zellweger) Many studies on animals and humans showing visual and cognitive impairment Mitochondrial disorders Schizophrenia ADHD, dyslexia Depression
17 Food Sources of DHA Amount Food Mg DHA Fish 4 oz Salmon (pink)-baked/broiled oz Bluefish-baked/broiled oz Bass (fresh water)-baked/broiled oz Trout (sea,steelhead) fillet oz Soul/Flounder-fillet oz Tuna in water, canned and drained oz Cod(atlantic) fillet oz Fish sticks- frozen 145 ¾ CUP Tuna salad 85 6 each Shrimp (large) steamed 48 Organ Meats 4 oz Beef Brains oz Beef Liver oz Chicken Liver 91 Poultry 4 oz Chicken or Turkey Dark Meat 57 4 oz Chicken or Turkey Breast 34 Eggs 1 Large whole 19 1 Large egg yolk 19
18 Current Recomendations 1999-Expert Panel sponsored by the NIH, Center for Genetics, Nutrition and Health, ISSFAL Adults: LA=2% ALA=1% DHA=220mg/d EPA=220mg/d Pregnant & lactating need 300mg/d DHA Preterm and term infants: Adequate intake in infant formula: 0.35% DHA 0.5% ARA
19 Phenylalanine intake How much phe is allowed? Goal: amount to keep blood phe 2-6 mg/dl How does she count phe intake? How does she keep track? How is blood phe monitored? How often?
20 Phenylalanine Intake in Pregnancy Average intake of 300 mg at start of pregnancy to reach phe level of 2-6 mg/dl Phe tolerance increases as pregnancy progresses 2 to 3 times as much in second trimester 1200 mg- average intake at end of pregnancy As weight increases, so does phenylalanine tolerance
21 Interrelationship of Key Nutrients Protein Body breaks down muscle, causes higher phe Energy Body uses protein for energy (see above) Lack of weight gain causes lower tolerance for phe Phenylalanine Body breaks down muscle, causes higher phe
22 Vitamins and Minerals Does formula contain vitamins? Prenatal vitamin recommended starting prior to pregnancy and throughout breast-feeding Iron supplement commonly prescribed Zinc, B 12
23 Before Pregnancy - Challenges Adjustment to diet Getting supplies Finding formula that works Avoiding high protein foods Cooking low protein foods Hunger Anxiety about blood levels Fertility
24 Before Pregnancy - How to help Formula tips Teach about low protein foods Ideas, ideas, ideas!! Encouragement Insurance
25 First trimester: Fetal development 0-2 weeks: conception 3 weeks: the brain, spinal cord and spine begin to develop 3-10 weeks: heart is fully formed and starts pumping blood
26 First Trimester - Challenges Nausea and Vomiting Avoiding weight loss If unplanned pregnancy: Adjustment to diet Getting supplies Formula Avoid high protein foods Low protein foods Finances
27 First Trimester - How to Help Visit or call frequently Tell clinic if formula intake is a problem Offer support and understanding Keep trying Provide suggestions for low phenylalanine foods Free foods and low protein foods
28 First trimester Coping with Nausea and Vomiting Avoid empty stomach, eat small frequent meals Formula may help, if tolerated Tablets or capsules as an alternative Eat what appeals - what do they miss most? Medication, bracelets Hospitalization in severe cases
29 Second Trimester-Fetal Development
30 Second Trimester- Challenges Nausea may persist Constipation or diarrhea Getting sufficient calories The 20 week ultrasound
31 Second Trimester - How to Help Provide high calorie, low protein foods Think of ideas for meals; especially lunch Encourage her to keep accurate food records Look forward, not back, if blood level is high Keep up motivation for taking the formula Accompany her to the week ultrasound Remind her about vitamins Help with meal planning for eating at work or restaurants Be a good listener
32 Third Trimester - Fetal Growth Fat deposits are laid down -insulation layer Fetus grows about 6 inches and triples its weight 28 weeks: microcephaly apparent by ultrasound
33
34 Third Trimester - Challenges Weight Gain Tired of diet Indigestion Body image Thinking about diet beyond pregnancy
35 Third Trimester - How to Help Encourage continued diet adherence Formula is the most critical component of the diet throughout pregnancy Most women feel worse about diet at end of pregnancy Talk about how she feels on diet/off diet How diet can help her cope with motherhood Hormonal changes, post partum blues
36 Postnatal Period- Nutrition Harder to keep Phe controlled Catabolism in post-partum period Weight loss Lower tolerance to phe without fetus Nutritional demands of breast-feeding Need for prenatal vitamin Fluids, rest Protein (formula)
37 Postnatal Period- Challenges Staying on Diet Fewer than 10% do Fluctuation in hormones, rise in phenylalanine, sleep deprivation Diet is needed for woman herself versus just for the baby
38 Postnatal Period- How to Help Praise and attention for the mom! Help determine how she can fit formula into new lifestyle Stay in touch
39 Case Examples Successful outcomes include: Planned pregnancy Blood levels timely and within the recommended range Good communication with the clinic regarding formula/food intake Adherence to clinic recommendations Good support system
40 Case examples Problem pregnancies Unplanned pregnancy Inability to obtain medical food products Not taking prescribed formula/foods Not obtaining timely blood tests Poor communication with clinic/dietitian Poor support system (not sure what to say about mom with eating disorder??)
41 Happy Parenting!!!
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