What is meant by an inborn error of metabolism? 2.  What failure in metabolism occurs in PKU? 3.  Why does the physician wait for a few days before ordering the PKU test? Why is the test repeated after 2 and 4 week intervals? 4.  Why are the first 2 years of life especially critical for the treatment of PKU?

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Marcie M. is an active 3 year old with blond hair and blue eyes. She is the only child in her family. At birth she weighed 5-1/2 lbs. After several feedings, a routine screening test for phenylketonuria was positive. She was retested at 2 weeks and again at 4 weeks. Each test was positive, blood phenylalanine was 30mg/dl and phenylpyruvic acid was identified in her urine.

With the diagnosis of PKU at age 2 weeks, she was started on Lofenalac year of life. She was seen at frequent intervals for phenylalanine measurements and formula adjustment. Her mother has been very careful in controlling her diet and making adjustments as indicated by her increased growth needs. Now, at this progress visit at age 3, she appears to be a healthy well-adjusted child. Her blood test reveals a phenylalanine level of 6 mg/dl. She weighs 35 lbs. and is 42” tall. She is well-nourished, alert and happy.

Marcie’s mother asked about the possibility of modifying her diet. Marcie has become interested in the different foods eaten by her playmates at the nursery school she attends and wants to eat like them. The children offer her foods that she should not eat. The pediatrician recommended Mrs. M find a very good nursery school where she can be confident that Marcie’s diet will be followed and her activity with her playmates monitored so that she will not get food she should not have.

Instructions: Address the following questions in a 2-3 page essay in APA format. Include an additional title page and reference page. Include an additional one-page Nutrition Care Plan using the Nutrition Care Process for this patient as an appendix to the paper. Please be aware that the title page, reference page and the appendix do NOT count towards the 2-3 page essay length minimum. The answers to the nine questions should be formulated into an essay that is 2-3 pages in length. Please access the Nutrition Care Plan document in doc sharing and use that file as a template for the appendix portion of this assignment.

1.  What is meant by an inborn error of metabolism?

2.  What failure in metabolism occurs in PKU?

3.  Why does the physician wait for a few days before ordering the PKU test? Why is the test repeated after 2 and 4 week intervals?

4.  Why are the first 2 years of life especially critical for the treatment of PKU?

5.  If Marcie had not been diagnosed and treated early with the low phenylalanine formula, what symptoms would she have exhibited?

6.  Both of Marcie’s parents have black hair and brown eyes. How do you explain Marcie’s light coloration?

7.  Why is it important to include some foods containing phenylalanine in the diet?

8.  What advice you would give Mrs. M regarding “relaxing” the restrictions?

9.  How long should Marcie have to be on her low phenylalanine diet?

Submitting your Assignment

Answer the above questions in a 2-3 page paper in APA format. Include a title page, introduction, body, conclusion, and reference page. Include an additional one-page Nutrition Care Plan using the Nutrition Care Process for this patient.

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