Human Heredity: Principles and Issues (MindTap Course List)
Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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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 2/3rd 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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Human Heredity: Principles and Issues (MindTap Course List)

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