Question

PKU case study

Name: Maryam T                               Word: Medical                       Bed: 6

Age: 17 years                                     Physician: Khaled Ahmad (unit C)

            Maryam is a 17 years old Kuwaiti girl. She is admitted to the hospital to do a surgery to implant internal fixation of plates and screws to maintain proper position of her fractured leg. She is diagnosed with phenylketonuria during the routine newborn screening test. She reported following low phenylketonuria diet since ever.

Diagnosis:                   leg fracture surgery

Medical plan:             Surgery to implant internal fixation of plates and screws to her fractured leg.

Medical history:         No medical history

Smoking:                    None

Family history:          Mother

Marital status:           Single

           

Physical examination:

Abdomen:      Normal                       

Chest/lungs: Clear   

Skin:               Soft, normal bowel sounds, no-tender           

Edema:           No

Stool:              Normal

Urine:             Normal

           

Vital signs:

BP:                                                      115/70

Pulse:                                                  62

Temperature:                                                37.3 ^OC

Height:                                                158 cm

Usual weight:                                     44 kg

Current weight:                                 44 kg

Biochemical lab test (before surgery):

Chemistry
Glucose	4.2	5.6 to 6.9 mmol/L
HbA1C (%)	5	<5.7
Creatinine	0.8	0.6-1.2 mg/dL
Urea	5.1	2.5 to 7.1 mmol/L
BUN	9	7-18 mg/dL
Potassium	4	3.5-5.3 mEq/L
Phosphate	2.8	2.5-4.5 mg/dL
Sodium	142	133-143 mEq/L
Chloride	105	98-108 mEq/L
Calcium	10	9-11 mg/dL
Albumin	4.3	3.5-5.8 g/dL
WBC	3.1	4.5-11 x109/L
Platelets	250	150,000-450,000 microliter
Neutrophils	4	3–7 x 109/L
RBC	6.2	4.8-9.3 x109/L
Hb	14	12-16 g/dL
Hct	42%	36-46%
Ferritin	68	20-120 (mg/mL)
MCV	92	80-100 fL
CRP	2	<3 mg/L
Fibrinogen	300	150-400 mg/dL
ESR	17	0-22 mm/hr
Cholesterol	150	<200 (mg/dL)
LDL	90	<130
HDL	52	>59
Triglycerides	120	35-135 (mg/dL)
Phe	153	120-360 mmol/L

question?

1. The medical food treatment which high in protein (eliminate Phenylalanine) make the patients feel full and increase satiety, which lead her to decrease food intake, how to avoid that? (5)

2. What is the right diet for infants (under 1year) with PKU? (10)

3. What range should Maryam keep her blood phenylalanine concentrations and how often should she be monitored? (8)

4. How long it is recommended to follow a restricted Phenylalanine diet? (10)

5. In the future when Maryam plan to be pregnant, why it is critical to control her Phenylalanine consumption? (10)

6. Why PKU patients are more sustainable to depression? (7)

7. Why does diet soda beverages are forbidden for PKU patients? (5)

8. What is the benefit of adding metabolic formula to PKU disorder patient diet? (5)

Answer 1

QUESTION : THE MEDICAL FOOD TREATMENT WHICH HIGH IN PROTEIN [ELIMINATE PHENYLALANINE ] MAKE THE PATIENTS FEEL FULL AND INCREASE SATIETY, WHICH LEAD HER TO DECREASE FOOD INTAKE , HOW TO AVOID THAT?

FOLLOW A LOW PHENYLALANINE FOOD PATTERN EAT SPECIAL LOW PROTEIN BREADS AND PASTAS ,PHENYLALANINE FREE MEDICAL FORMULA AND CAREFULLY MEASURED AMOUNTS OF FRUITS,VEGETABLES,CEREALS.

WHAT IS THE RIGHT DIET FOR INFANTS [ UNDER 1 YEAR ] WITH PKU?

A CHILD WITH PKU CAN EAT MANY FOODS LOW IN PROTEIN, SUCH AS VEGETABLES,FRUITS,AND SOME CEREALS.

WHAT RANGE SHOULD MARYAM KEEP HER BLOOD PHENYLALANINE CONCENTRATIONS AND HOW OFTEN SHOULD SHE BE MONITORED?

THE IDEAL RANGE FOR BLOOD PHENYLALANINE LEVEL IS AROUND 2-6 mg/dl [120 - 360μmol/L ] .SAFE LEVEL OF PHENYLALANINE DIFFER FOR EACH PERSON WITH PKU AND CAN VARY OVER TIME.REGULAR REVIEW OF DIET RECORDS,GROWTH CHARTS AND BLOOD LEVELS OF PHENYLALANINE.

HOW LONG IT IS RECOMMENDED TO FOLLOW A RESTRICTED PHENYLALANINE DIET?

A LIFETIME DIET WITH VERY LIMITED INTAKE OF PROTEIN IS RECOMMENDED.

IN THE FUTURE WHEN MARYAM PLAN TO BE PREGNANT, WHY IT IS CRITICAL TO CONTROL HER PHENYLALANINE CONSUMPTION?

HIGH PHENYLALANINE LEVELS IN THE PREGNANT MOTHER CAN CAUSE INTELLECTUAL DISABILITY,SMALL HEAD SIZE, HEART DEFECTS, AND LOW BIRTH WEIGHT IN THE UNBORN BABY.

WHY PKU PATIENTS ARE MORE SUSTAINABLE TO DEPRESSION?

PKU PATIENTS HAVE LOWER IQ  PATIENTS REPORTED DEPRESSION MORE FREQUENTLY. DECREASED QUALITY OF LIFE LEAD TO DEPRESSION IN PKU PATIENTS.

WHY DOES DIET SODA BEVERAGES ARE FORBIDDEN FOR PKU PATIENTS?

PKU PATIENTS ARE UNABLE TO METABOLIZE PHENYLALANINE PROPERLY, THEY SHOULD AVOID OR LIMIT ITS INTAKE FROM FOOD AND DRINK. DIET COKE IS NIT EXACTLY CONSIDERED TO BE A PROTEIN RICH FOOD.HOWEVER,IT DOES CONTAIN ASPARTAME,WHICH IS AN ARTIFICICIAL SWEETNER COMPOSED OF TWO AMINO ACIDS:  ASPARTIC ACID AND PHENYLALANINE.

WHAT IS THE BENEFIT OF ADDING METABOLIC FORMULA TO PKU DISORDER PATIENT DIET?

THE MAIN WAY TO TRAT PKU IS TO EAT A SPECIAL DIET THAT LIMITS FOODS CONTAINING PHENYLALANINE.INFANTS USUALLY NEED TO CONSUME A SPECIAL FORMULA KNOWN AS LOFENALAC.WHEN THE BABY CAN SOLID FOODS,NEED TO AVOID LETTING THEM EAT FOODS HIGH IN PROTEIN.