Download Phenylketonuria - Elizabeth Sells Portfolio

Name: Rosalyn Rivers
DOB: 5/20/95 age 18
Physician: Dr. Jane Doe
Date: 4/14/14
Temp: 98
Height: 5’10”
Weight: 165 lbs.
B/P: 110/70
Last ate: 0800, oatmeal
Last drank: Previous Friday, one drink
Supplements: Fish oil pill, one daily
Education: College, one semester
Occupation: Student
Household members: 3 roommates at school, mom, dad, and brother (16 y/o) at
home
Ethnic Background: Caucasian
Religious affiliation: Catholic
Referred by: Psychiatrist, Dr. Jane Doe
Medical 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 birth
Type of tx: Low-PHE diet from birth-age 17
PMH: Healthy except for PKU. Participates in intramural soccer. Good student.
Meds: None, fish oil supplement
Smoker: no
Family hx: Diabetes, maternal grandmother
Nutrition Hx:
Patient indicates a normal appetite, and normal diet
24-hour recall:
BREAKFAST:
1 medium apple
½ c. cheerios
½ c. skim milk
1 c. black coffee
LUNCH:
Sandwich (2 slices white bread, 2 oz turkey, 1 oz provolone cheese, ¼ c. spinach)
½ c. grapes
½ c. pita chips (70 PHE)
2 T. hummus
1 c. orange juice
DINNER:
1 c. whole wheat pasta
½ c. marinara sauce
1 slice garlic bread (100 PHE)
1 c. spinach salad w/o dressing
½ c. frozen yogurt
Nutrition 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/day
A- PKU 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 PKU
Ht. 5’10” wt. 165#
BMI: 23.7
EER: 2425 kcal/day
Protein requirements: >55g/day
DExcessive 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 24hour 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 log
Phenyl-Free®
2
Phenyl-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-free
22 g protein equivalents/100 g powder
Higher level of protein equivalents than found in Phenyl-Free 1
Lactose-free
Vanilla scent
Can be easily modified with preferred flavor enhancers
Mixes easily and stays in suspension well
Phenyl-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
½ c. cheerios
½ c. skim milk
1 c. black coffee
LUNCH:
Sandwich (2 slices white bread,
2 oz turkey, 1 oz provolone cheese, ¼ c. spinach)
½ c. grapes
½ c. pita chips (70 PHE)
2 T. hummus
1 c. orange juice
DINNER:
1 c. whole wheat pasta
½ c. marinara sauce
1 slice garlic bread (100 PHE)
1 c. spinach salad w/o dressing
½ c. frozen yogurt
MENU:
BREAKFAST
2 slices low-protein banana bread
1 banana
8 oz formula
LUNCH
1 cup spinach
2 T Italian dressing
2 slices Low protein bread
¼ c. Low protein cheese
½ c. tomato soup
8 oz formula
DINNER
½ c. low-protein pasta
¼ c. marinara sauce
½ c. baby carrots
½ c. blended frozen banana
4 oz formula
DISCUSSION 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.
http://www.nichd.nih.gov/health/topics/pku/conditioninfo/Pages/diagnosed.aspx
http://www.uic.edu/classes/phar/phar332/Clinical_Cases/aa%20metab%20cases/
PKU%20Cases/faq.htm#8
Treatment:
 Medical, surgical, and psychological
o There 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.
o http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm
 Medical Nutrition Therapy
o The 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).
 Prognosis
o The 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).
REFERENCES
PKU Clinic - University of Washington, Seattle. (2008). PKU Clinic - University of Washington,
Seattle. Retrieved from http://depts.washington.edu/pku/about/diet.html
. (n.d.). . Retrieved from
http://www.uic.edu/classes/phar/phar332/Clinical_Cases/aa%20metab%20cases/
PKU%20Cases/faq.htm#8
Lindegren, 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 http://www.nlm.nih.gov/medlineplus/ency/article/001166.htm
How do health care providers diagnose phenylketonuria (PKU)?. (n.d.). How do health care
providers diagnose phenylketonuria (PKU)?. Retrieved , from
http://www.nichd.nih.gov/health/topics/pku/conditioninfo/Pages/diagnosed.aspx
Macleod E., Ney D. (2010). Nutritional management of phenylketonuria. Ann Neslte Eng.
68:2, 58–69.
Phenylketonuria (PKU). (n.d.). Mayo Clinic. Retrieved , from
http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/lifestylehome-remedies/con-20026275
Singh, R., & Rohr, F. (2014). Recommendations for the nutrition management of phenylalanine
hydroxylase deficiency. Genet Med, 16(2). 121-131.
http://www.enfamil.com/products/phenyl-free-1-2-and-2hp