Transcript File - Adrienne Inger`s Dietetic Portfolio

Adrienne Elise Inger
Cal Poly Pomona Dietetic Intern 2012-2013
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Patient Background
History of Present Illness
Diagnoses
Medications
Additional Therapies
ADIME
Economic Benefits of MNT
Literature Reviews
My Role & Feedback
This information has been removed to protect
patient confidentiality
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RD
MD
RN (blood sample collection, heights, weights)
OB/GYN
Nutrition Care Manual recommends that a Social Worker + Psychologist
be part of the team to help individuals with:
Social barriers to adherence
Problem solving around insurance and formula issues
Psychological and neuropsychological status
Sleep Patterns:
Patient reports sleeping well (9-10 hours/night)
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Elimination: Regular. Typical BM 1x/day
Exercise, recreation and activity level:
Patient is moderately active; reports walking 2-4 miles per
day and playing with brother at the park 1-2x per week
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Dental Health: Good dentition
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Tobacco use: Denies
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Alcohol and other drug use: Denies
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Pt with elevated phe levels since age 3
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(2010) Stopped drinking phe-free, tyrosine enriched formula
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(11/2011) Trial of Kuvan failed
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(9/2/2012) Patient’s last menstrual period
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(10/26/12) Chief complaint: Missed period
Pregnancy confirmed in Genetics clinic and pt seen by
nutrition services
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Patient informed that she is required to come to Genetics
Clinic weekly during pregnancy for close monitoring of
Maternal PKU
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Now: 18 weeks pregnant (2nd trimester)
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Phenylketonuria (diagnosed at birth)
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Maternal Phenylketonuria
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Adolescent Pregnancy (high nutritional risk)
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Etiology: Autosomal recessive inherited
disorder of amino acid metabolism occurring
in 1 in 10,000 births
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Pathophysiology:
Phenylalanine is not
metabolized to tyrosine because
of a deficiency or inactivity of
liver enzyme phenylalanine
hydroxylase
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Even if the PAH enzyme
functions properly, a patient
may still present with PKU if the
enzyme dihydropterin reductase
(which hastens the production of
tetrahyrobiopterin or BH4) is
deficient
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Consumption of a
semisynthetic,
phenylalanine-free,
tyrosine-supplemented
formula
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Small amounts of natural
foods to provide the
required amount of
essential amino acid
phenylalanine
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Exclude high-protein
foods and Aspartame
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Tetrahydrobiopterin (BH4), a cofactor needed for the
proper activity of PAH can be supplemented in patients
that have BH4-responsive PKU (i.e. Kuvan)
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Large neutral amino acid supplementation (i.e. threonine)
may help to decrease serum phe levels by competing with
phe absorption at the gut-blood barrier. More evidence is
available on their work at the blood-brain barrier
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Untreated PKU is characterized by severe to profound
intellectual disability, seizures, autistic-like behaviors,
microcephaly, rashes, hypopigmentation, and a musty
body odor (phenylacetic acid)
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Pathophysiology: Amplified transport of amino acids
across the placenta occurs during pregnancy, thus the
fetus is exposed to approximately twice the phe level
contained in normal maternal blood
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May result in growth retardation, significant
psychomotor handicaps, and birth defects in the
offspring of unmonitored and untreated pregnancies
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Normal pregnancy and neonatal outcome where blood
phe concentrations between 120 and 360 mol/L are
reached before conception or by 8 weeks of gestation
at the latest
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Approximately 1 million U.S. adolescents become pregnant every
year, accounting for 25% of U.S. pregnancies
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Adolescents most likely to get pregnant are those with inadequate
nutritional status and unfavorable socio-economic background
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Pathophysiology: Competition for nutrients between the growing
pregnant adolescent and her fetus
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Common complications: Low birth weight, infant anemia,
delivery complications, and prematurity
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Medical/Nutritional Treatment: Ensure adequate macronutrient
and micronutrient intake
(Especially Ca, Fe, vitamin A, vitamin C)
Condition
Potential Relationship
Actual Relationship
Phenylketonuria
High dietary levels of Phe
Unknown
can lead to cognitive delays
and diminished IQ
Phenylketonuria
PKU patients may have low folic Patient ingesting adequate
acid, vitamin B6, and vitamin
levels of these nutrients
b12, which could lead to serious
complications for the baby
including miscarriage,
structural heart disease, and
neural tube defects
Maternal Phenylketonuria
High dietary levels of Phe
Unknown
can result in growth
retardation, psychomotor
handicaps, and birth defects
in offspring
Adolescent Pregnancy
Increased needs for growth Unknown
of mother and fetus;
Common vitamin/mineral
deficiencies may lead to
miscarriage, birth defects,
low birth weight (LBW), etc.;
Pregnant adolescents at a
higher risk for excessive
weight gain
Height: 161 cm; 5’3”
 Current wt: 61.3 kg
(Mechanical Beam Physician Scale)
 Admit weight: 63 kg; outlier
 Usual weight: 58 kg (pre-pregnancy)
 Pre-pregnancy IBW: 52.3 kg, 110% of IBW
 Pre-pregnancy BMI: 22.6
(within normal limits)
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Possible Physical Conditions:
Hypopigmentation, musty odor and eczema
Patient has no present physical conditions
Neuropsychological Conditions:
Poor memory, decreased attention span, and
impaired reasoning
Increased focus and memory noted in past
month
Breakfast:
Pasta (1 cup); 416 mg Phe
Strawberries (1 cup); 32 mg Phe
Lunch:
Chili Cheese Fries – Carl’s Jr.; 307 mg Phe
Or Chilaquiles; 160 mg Phe
Dinner:
White Rice (1 cup); 188 mg Phe
Broccoli (1 cup); 45 mg Phe
Snacks:
Oreos (2 cookies); 52 mg Phe
Potato Chips – Lay’s Original; 93 mg Phe
McDonald’s Fries (medium); 152 mg Phe
Totals: 1,819 calories, 47 gm protein, 75 gm fat, 1,445 mg phe
 Average intake of Phe calculated from diet recalls = 800-1,217 mg/day
 Desired phe intake = 200-600 mg/day
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Estimated needs from the ROSS Metabolics Nutrition
Support Protocols, 4th Edition:
Second Trimester (<19 years old):
Kilocalories: 2,000-3,500 kcals/day
Protein: ≥75 gm/day
Phe: 200-900 mg/day
Tyrosine: 5.75-7.5 gm/day
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Estimated needs from the RDA for Normal Pregnancy
25-30 kcal/kg (BMI wnl)
Patient weighs 58 kg= 1450-1740 kcal/day
Increased Needs for 2nd Trimester: 340-360 kcal/day
Kilocalories: 1,810-2,100 kcals
Protein: 1.1 gm/kg = 64 gm
Based on References and Clinical Judgement:
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Kilocalories: 2350 kcals (40 kcal/kg)
Protein: ≥75 gm/day
Phe: < 300 mg/day
Formula:
180 gm Phenex-2 formula
738 kcals, 54 gm protein, 0 mg Phe, 24.3 gm fat
Breakfast:
CBF Bigger Bagel (Plain); 32 mg Phe
1 TBSP Butter; 6 mg Phe
1 TBSP Honey; 2 mg Phe
1 c. Fresh Apple; 6-8 mg Phe
Snack:
2 CBF Focaccia Sticks; 26 mg Phe
1 cup Apple Juice; free food
Lunch:
1 c. Aproten Chicchi (Rice); 10 mg Phe
¼ c. Enchilada Sauce; 6 mg Phe
1 TBSP Butter; 6 mg Phe
½ c. Applesauce; 6 mg Phe
Dinner:
½ c. Broccoli; 45 mg Phe
1 c. Potatoes; 106 mg Phe
1 TBSP Olive Oil; free food
¼ c. Dried Cranberries; 6-8 mg Phe
Totals: 2,363 calories, 115 gm protein, 94 gm fat, 260 mg phe
Problem Areas: Folate in excess (minimal toxicity risk)
Assessment of nutritional status
 Sub-optimal
 Phe levels that remain above 2-6 mg/dL
 Weight gains that exceed recommended levels
 One incidence of unintended weight loss
 Patient is achieving optimal levels of
macronutrient and micronutrient intakes, and
thus is not at risk for deficiencies
 Intake of folic acid may exceed tolerable Upper
Limit (UL) – minimal toxicity risk
Primary Problem: High serum phenylalanine:
Inappropriate intake of amino acids related to low comprehension of nutrition care plan as
evidenced by serum Phe levels of 18.7 mg/dL, where >8 mg/dL indicates loss of dietary control of
PKU.
Less than optimal intake of types of protein or amino acids (NI-5.7.3) related to lack of knowledge
of the phenylalinine content of foods as evidenced by inability to name food sources of
phenylalinine.
Secondary Problem: Increased energy needs:
Increased energy needs (NI-5.1) related to accelerated growth of fetus as evidenced by estimated
intake of foods/supplements not meeting estimated requirements.
Secondary Problem: Excessive weight gain:
Unintentional weight gain (NC-3.4) related to pregnancy as evidenced by estimated intake
inconsistent with estimated energy needs.
Secondary Problem: Unintentional weight loss:
Unintentional weight loss (NC-3.2) related to physiological causes increasing nutrient needs
(pregnancy) as evidenced by weight loss of 1 lb (0.75%) over the course of one week.
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Due to the potential teratogenic effects of
patient’s elevated serum phe levels, primary
intervention includes nutrition education of
phenylalanine-containing foods and the
potential consequences of poorly managed PKU
on offspring
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Dietary prescription of phe-free and low-phe
containing foods
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Menu planning to ensure adequate energy
intake/avoid excessive intakes
Nutrition Goals
 Phe levels of 2-6 mg/dL
 Improved formula acceptance
 Improved diet adherence
 Weight gain of 2-4 lb in first trimester
 Weight gain of approximately 1 lb/week in
second trimester
 Patient to calculate daily phe intake
Anthropometrics:
 Overall weight gain exceeds the recommended 4-6 lbs by approximately
1.5 lbs (30%)
 Fluctuations in weight gains/losses indicate high levels of variation in
consumption patterns
Biochemical:
 Phe levels have dropped 11 mg/dL (from 18.7 mg/dL to 7.7 mg/dL)
Clinical: N/A. Possible cognitive improvement noted
Dietary: Compliance improved
Patient Satisfaction: Patient feels gratified by improved serum Phe levels
Quality of Life: Good related to patient finds low-phe foods to be palatable,
and is in a relatively supportive environment. QOL to be re-assessed
after birth of child
Cost of Phenex-2 Formula: $245.13 for six 14.1 oz cans
=2299.5 oz/yr divided by 14.1 oz/can = 164 cans/year
=27 item purchases (equaling 164 cans total)
27 purchases x $245.13/purchase = $6,618.51 a year
Cost of 6 months worth of Low-Protein Foods: $1,320.54
$1,320.54 x 2 = $2,641.08 a year
Total Cost: 9,259.59 paid by Medical/CCS
Reported consumption cost of caring for a child with a disability
varied from $108 to $8,742 a year paid by patient
(caregiver time, missed work days)
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Spronsen, F. Large neutral amino acids in the treatment of PKU: from theory to practice. J
Inherit Metab Dis. 2010 December; 33(6): 671–676.
Discussed the use of Large Neutral Amino Acid (LNAA) supplementation to compete
with phenylalanine absorption at the blood-brain barrier and gut-blood barrier.
Methods discussed here were used to understand patient’s medication history.
Saal, H. Maternal Phenylketonuria. J. of the American Academy of Pediatrics. 2008;
122:445-449.
Outlined the teratogenic effects of poorly managed maternal phenylketonuria;
discussed newborn screening of phenylketonuria in the United States; provided
reference serum phenylalanine levels for normal neonatal outcome. Information
obtained from this article was used in patient intervention.
Koch, R. Psychosocial issues and outcomes in maternal pku. J. of Molecular Genetics and
Metabolism, 2010; 99:568-574.
Discussed the factors affecting dietary adherence including poor access to medical
care, practical difficulties implementing the diet, financial constraints, demographics,
and psychosocial issues. Used to gain perspective on patient’s situation, and to
counsel patient in a culturally sensitive manner.
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Obtained consent from physician and team to assume
responsibility for the nutritional care of the patient
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Overviewed patient condition and intervention strategies with
team
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Researched and reported target phe levels, phe-containing foods,
and teratogenic effects of poorly managed PKU to hospital RD’s
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Analyzed patient dietary recalls and calculated average phe
intakes
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Created low-phenylalanine meal plans
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Advocated for lab draws to MD
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Charted patient note into HUCLA database
With the opportunity to re-do this assignment,
I would:
 Find my patient sooner
 Choose an inpatient for the sake of data
acquisition
Acosta, P. B. (2001). Disorders of amino acid metabolism. In The Ross Metabolic Formula System Nutrition Support
Protocols (4th ed.). Columbus, Ohio: Abbott Laboratories.
Anderson, D., & Dumont, S. (2007). The personal costs of caring for a child with a disability: A review of the literature. Public
Health Rep, 122, 3-16. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1802121/
(2007). Autosomal recessive inheritance. (2007). [Web Graphic]. Retrieved from
http://www.actionbioscience.org/genomic/siegal.html
(201). Biochemistry of phenylketonuria. (201). [Print Photo]. Retrieved from
http://www.virtualmedstudent.com/links/metabolism/phenylketonuria.html
Escott-Stump, S. (2012). Nutrition and diagnosis-related care. (7th ed., pp. 204-207). Baltimore, MD: Lippincott Williams &
Wilkins.
Mahan, K., Escott-Stump, S., & Raymond, J. L. (2012). Nutrition in pregnancy and lactation. (13th ed., pp. 353-367). Elsevier
Inc.
Mahan, K., Escott-Stump, S., & Raymond, J. L. (2012). Medical nutrition therapy for inherited metabolic disorders. (13th ed.,
pp. 353-367). Elsevier Inc.