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

A pregnant woman at 36 weeks gestation is diagnosed with preeclampsia. The nurse monitors the woman for which signs and symptoms of preeclampsia? a) Hypotension and bradycardia b) Proteinuria and hypertension c) Hyperglycemia and polyuria d) Bradypnea and hypothermia

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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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