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Name: Rosalyn RiversDOB: 5/20/95 age 18Physician: Dr. Jane DoeDate: 4/14/14Temp: 98Height: 5’10”Weight: 165 lbs.B/P: 110/70Last ate: 0800, oatmealLast drank: Previous Friday, one drinkSupplements: Fish oil pill, one dailyEducation: College, one semesterOccupation: StudentHousehold members: 3 roommates at school, mom, dad, and brother (16 y/o) at homeEthnic Background: CaucasianReligious affiliation: CatholicReferred by: Psychiatrist, Dr. Jane DoeMedical Diagnosis: ADHD by psychiatrist, (03/14)Chief Complaint: “I went off of my PKU diet one year ago and have been gradually losing my ability to concentrate. This has gotten really bad at school, and I find myself losing focus in class and becoming distracted easily. My athletic performance in soccer has also worsened dramatically.”Patient History:Onset of disease: PKU at birthType of tx: Low-PHE diet from birth-age 17PMH: Healthy except for PKU. Participates in intramural soccer. Good student. Meds: None, fish oil supplement Smoker: noFamily hx: Diabetes, maternal grandmotherNutrition Hx:Patient indicates a normal appetite, and normal diet24-hour recall:BREAKFAST:1 medium apple? c. cheerios? c. skim milk1 c. black coffeeLUNCH:Sandwich (2 slices white bread, 2 oz turkey, 1 oz provolone cheese, ? c. spinach)? c. grapes? c. pita chips (70 PHE)2 T. hummus1 c. orange juiceDINNER:1 c. whole wheat pasta? c. marinara sauce1 slice garlic bread (100 PHE)1 c. spinach salad w/o dressing? c. frozen yogurtNutrition Consult:In order to reduce or eliminate the ADHD symptoms, RR should start a PKU diet. It is recommended that RR receive 230-700 mg PHE/day, with an ideal amount of 300 mg. RR should consume >55 g protein/day. To receive adequate protein, RR can have 100g of Phenyl-free. Harris Benedict:(655 + (9.56 x (75kg)) + (1.85 x (177.8 cm)) – (4.68 x 18 yrs)) PAL 1.5 = 2425 kcal/dayPKU patient complains of ADHD symptoms (easily distracted, difficulty concentrating). Referred by psychiatrist for consultation on PKU diet. Patient discontinued PKU diet one year ago. Patient consumes ~2000 mg PHE/day.18 y/o female with PKUHt. 5’10” wt. 165# BMI: 23.7EER: 2425 kcal/dayProtein requirements: >55g/dayD- Excessive phenylalanine intake related to ~2000 mg PHE intake/day, as evidenced by 24-hour recall and ADHD symptoms.Knowledge deficit related to discontinuation of PKU diet as evidenced by 24-hour recall and personal account.I-Modify diet to minimize PHE consumption to ~300 mg/day by decreasing consumption of high-PHE foods (bread, cheese, etc.), and increasing consumption of low-PHE foods (fruits and vegetables). Introduction of Phenyl-free 2 adult formula will allow RR to meet protein needs without increasing PHE consumption.Educate patient on low and high PHE foods, and how to choose low PHE foods while eating out and shopping at the grocery store. M/E- Blood PHE levels will be monitored monthly for six months. Levels should be between 1-10 mg/dL. Patient will keep food logPhenyl-Free? 2Phenyl-Free 2 is a medical food powder that is free of the essential amino acid phenylalanine for children and adults with phenylketonuria (PKU).Phenyl-Free 2 provides all other essential amino acids as well as nonessential amino acids, carbohydrate, fat, essential fatty acids, vitamins, and minerals. Phenyl-Free 2 has less fat and fewer total calories than Phenyl-Free 1.Phenylalanine-free22 g protein equivalents/100 g powderHigher level of protein equivalents than found in Phenyl-Free 1Lactose-freeVanilla scentCan be easily modified with preferred flavor enhancersMixes easily and stays in suspension wellPhenyl-Free 2 should only be used under the direct and continuing supervision of a doctor.Ask your doctor about Phenyl-Free 2.Call 1-800-BABY123 for more information or to order this metabolic formula.24-hour recall:BREAKFAST:1 medium apple? c. cheerios? c. skim milk1 c. black coffeeLUNCH:Sandwich (2 slices white bread, 2 oz turkey, 1 oz provolone cheese, ? c. spinach)? c. grapes? c. pita chips (70 PHE)2 T. hummus1 c. orange juiceDINNER:1 c. whole wheat pasta? c. marinara sauce1 slice garlic bread (100 PHE)1 c. spinach salad w/o dressing? c. frozen yogurtMENU:BREAKFAST2 slices low-protein banana bread1 banana8 oz formulaLUNCH1 cup spinach2 T Italian dressing2 slices Low protein bread? c. Low protein cheese ? c. tomato soup8 oz formulaDINNER? c. low-protein pasta? c. marinara sauce? c. baby carrots? c. blended frozen banana4 oz formulaDISCUSSION OF PKU:Etiology:Phenylketonuria is a common amino acid disorder that is brought on by an absence of activity in or reduction in the enzyme phenylalanine hydroxylase. In order for a baby to have PKU, both parents must pass on a defect gene, or an autosomal defective trait. Phenylalanine hydroxylase plays a crucial role in the body by converting the essential amino acid phenylalanine into tyrosine. In the absence of this enzyme, levels of phenylalanine, phenylacetic acid, and phenylpyruvic acid build up in the blood and tissues, resulting in mental retardation and behavioral problems. This buildup also decreases the synthesis of neurotransmitters serotonin, epinephrine, norepinephrine, and dopamine. This results in cognitive and emotional problems. Infants with PKU are usually fairer than other family members because of the decreased levels of pigmentation that are related to decreased tyrosinase enzyme. 1 in 15,000 babies is born with PKU.Nelms, M., Sucher, K., Lacey, K., Roth, S. L., & Habash, D. (2010).?Nutrition therapy and pathophysiology. (2/e ed.). Belmont: Brooks/Cole Pub Co.Diagnostic Measures:1 in 13,500-19,000 babies test positive for PKU. The diagnostic measure used to diagnose patients is the Guthrie Test. This is done by taking a few drops of blood from the heel. This procedure is done 24 hours after birth. It is important that the baby has consumed protein to avoid skewed results (Mayoclinic). This blood is then taken to a lab and tested for phenylalanine levels. If the level is 120-480 micromol/L, the PKU is benign. If the level is 480-1200 micromol/L, the PKU is atypical, and if the level is 1200 micromol/L or higher, the PKU is severe. , surgical, and psychologicalThere is no medical, surgical, nor psychological treatment for PKU. The treatment is nutrition-related. If a patient does not follow the diet, or if they are misdiagnosed, it is possible that they could develop mental retardation, and many other psychological issues. In this instance, it would be appropriate for psychological treatment. Nutrition TherapyThe nutrition intervention in a patient with PKU is vital to their health. The intervention is a low-phenylalanine diet, with extra care to make sure that children receive adequate protein and calories for growth. It is important to consume as much naturally-occurring protein as possible, while maintaining blood-phe levels at the desired level. Many times, patients find it useful to consume low-phe protein formulas to meet their protein needs. All of these goals can be accomplished by consuming low-protein foods. These are foods that have been modified to contain less protein (1 g/serving). Times when medical nutrition therapy is essential is during illness or metabolic crisis. These events can cause blood phenylalanine levels to spike. In response, a patient must lower the intake of phenylalanine by reducing natural protein intake, eat sufficient calories to prevent catabolism, and drink plenty of fluids to flush out toxic metabolites (Nelms, 2010). It was once recommended that patients discontinue the diet after they are finished growing. In recent years, this notion has been overturned by evidence that continuation of the diet through a lifetime can prevent drops in IQ, the onset of ADHD and attention problems (Nelms, 2010). Those who continue the diet can maintain normal mental and physical health throughout life (Medline Plus, 2013). PrognosisThe prognosis for PKU is very good, if the diet is followed closely. If the diet is delayed, or not started at all, the patient can have severe intellectual disability by the end of the first year of life. During childhood, any divergence from the diet can cause brain damage. Patients with PKU can live healthy, normal lives, if they follow the diet. (National Institutes of Health, 2013). REFERENCESPKU Clinic - University of Washington, Seattle. (2008). PKU Clinic - University of Washington, Seattle. Retrieved from . (n.d.).?. Retrieved from , M., Krishnaswami S. , Fonnesbeck C.,et al. (2012).Adjuvant Treatment for Phenylketonuria (PKU). Rockville (MD): Agency for Healthcare Research and Quality (US).Nelms, M., Sucher, K., Lacey, K., Roth, S. L., & Habash, D. (2010).?Nutrition therapy and pathophysiology. (2/e ed.). Belmont: Brooks/Cole Pub Co.Phenylketonuria: MedlinePlus Medical Encyclopedia. (n.d.).?U.S National Library of Medicine. Retrieved , from do health care providers diagnose phenylketonuria (PKU)?. (n.d.).?How do health care providers diagnose phenylketonuria (PKU)?. Retrieved , from E., Ney D. (2010). Nutritional management of phenylketonuria.? Ann Neslte Eng. 68:2, 58–69.Phenylketonuria (PKU). (n.d.).?Mayo Clinic. Retrieved , from , R., & Rohr, F. (2014). Recommendations for the nutrition management of phenylalanine hydroxylase deficiency. Genet Med, 16(2). 121-131. ................
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