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
bartleby

Concept explainers

Question
Book Icon
Chapter 3, Problem 3CS
Summary Introduction

To determine: The foods that contain phenylalanine.

Introduction: The disease phenylketonuria (PKU) is an autosomal recessive disorder. This is a genetic disorder that results in the alteration in the gene encoding for phenylalanine hydroxylase that leads to phenylalanine build up in the body causing intellectual disability, seizures, delayed disability, hyperactivity and psychiatric 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 disease 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.

Summary Introduction

To determine: The effect of disruptive diet therapy on the everyday life of the newborn suffering from PKU.

Introduction: Phenylketonuria is characterized by the presence of high levels of amino acid phenylalanine in the blood. The affected individual lacks the enzyme phenylalanine hydroxylase that causes the metabolism of the amino acid which results in the build-up of phenylalanine in the blood.

Blurred answer
Students have asked these similar questions
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
When a nurse takes your blood, why must the collection tube be heparinized? A) To prevent the blood from agglutinating. B) To keep the blood fresh so the components don't break down before the diagnostic tests can be run. C) To prevent the blood from clotting after collection. D) To prepare the blood for a specific diagnostic test that is going to be performed.
Fasting blood glucose levels in pregnant women are normally 10-20% lower than in healthy non-pregnant women.  What is the most likely explanation? Question 39 options: a)  Maternal counter-regulatory hormones do not function during pregnancy b)  Fetal and maternal insulin act in synergy to reduce maternal blood glucose levels c)  Pregnancy is normally a state of increased maternal insulin-resistance d)  During fasting, the fetus continues to consume maternal glucose to promote its growth

Chapter 3 Solutions

Human Heredity: Principles and Issues (MindTap Course List)

Knowledge Booster
Background pattern image
Biology
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.
Similar questions
SEE MORE QUESTIONS
Recommended textbooks for you
Text book image
Human Heredity: Principles and Issues (MindTap Co...
Biology
ISBN:9781305251052
Author:Michael Cummings
Publisher:Cengage Learning
Text book image
Curren'S Math For Meds: Dosages & Sol
Nursing
ISBN:9781305143531
Author:CURREN
Publisher:Cengage