To predict: The treatment strategies for phenylketonuria (PKU). Introduction: Phenylketonuria is a recessive disorder that mainly affects the Caucasian and the Asians. The diseases are marked by increased levels of phenylalanine in the blood which can result in intellectual disability and other physiological problems. The case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia. This occurs 1 in every 10,000 births. The classic form of PKU constitutes to 2/3 rd of the cases. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated it can lead to intellectual disability, seizures, and hyperactivity. The EEG shows abnormality along with the prominent mousy odor of skin, hair, and urine.

Question

Filipina’s 3-year-old daughter, Manila, was brought to a clinic. The doctor diagnosed Manila with a severe dry cough. A mucolytic solution was prescribed and to be administered for seven days. The prescription states, “Mucolytic, XYZ Brand, 60 ml, dosage-1 teaspoon 1 hour before a meal, 3x a day”. Now, Filipina is skeptical of the dosage mentioned in the prescription regarding the proper amount of medicine to be administered to her daughter. If you are Filipina, how are you going to approach the case to make sure that your daughter will not have an overdose or underdose of the medicine prescribed? Apply the principle of accuracy and precision in the problem.

Answer 1

Question

Chapter 3, Problem 2CS

Summary Introduction

To predict: The treatment strategies for phenylketonuria (PKU).

Introduction: Phenylketonuria is a recessive disorder that mainly affects the Caucasian and the Asians. The diseases are marked by increased levels of phenylalanine in the blood which can result in intellectual disability and other physiological problems.

The case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia.

This occurs 1 in every 10,000 births. The classic form of PKU constitutes to 2/3^rd of the cases. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated it can lead to intellectual disability, seizures, and hyperactivity. The EEG shows abnormality along with the prominent mousy odor of skin, hair, and urine.

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