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 2/3 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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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 2/3^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.

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.

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Elsa is an 11-month-old girl. Her parents have brought her to her pediatrician because they have noticed she seems lethargic and pale. Both parents have noticed that she appears bloated, doesn’t want to eat as much as she has before, and is tired and “cranky all the time.” They suspected she might be suffering from anemia, since she was being fed a low-iron formula, so they had switched to a high-iron formula. The change made no difference in her symptoms. The pediatrician notes that Elsa’s belly appears swollen. Her vital signs show that her temperature is normal and her heart rate is on the low end of the normal range for her age. She has dropped from the 50th percentile in height and weight (at her last check-up) to the 10th percentile in both height and weight. Blood test results: Hemoglobin: 5 g/dl RBC: 4.6x106 cells/ml MCV: 65 WBC: 18,000 cells/microliter Platelet count: 250,000 In your own words, briefly describe why Elsa’s parents changed her formula to the high-iron…

Elsa is an 11-month-old girl. Her parents have brought her to her pediatrician because they have noticed she seems lethargic and pale. Both parents have noticed that she appears bloated, doesn’t want to eat as much as she has before, and is tired and “cranky all the time.” They suspected she might be suffering from anemia, since she was being fed a low-iron formula, so they had switched to a high-iron formula. The change made no difference in her symptoms. The pediatrician notes that Elsa’s belly appears swollen. Her vital signs show that her temperature is normal and her heart rate is on the low end of the normal range for her age. She has dropped from the 50th percentile in height and weight (at her last check-up) to the 10th percentile in both height and weight.In your own words, briefly describe why Elsa’s parents changed her formula to the high-iron baby formula.

Answer 2

Question

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 2/3^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.

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.

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Answer 3

Question

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 2/3^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.

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.

Expert Solution & Answer

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Answer 4

Question

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 2/3^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.

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.

Expert Solution & Answer

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Answer 5

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 2/3^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.

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.

Answer 6

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 2/3^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.

Answer 7

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 2/3^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.

Answer 8

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.

Answer 9

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.

Answer 10

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Answer 13

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Solution Summary: The author explains the autosomal recessive disorder phenylketonuria (PKU), which causes intellectual disability, seizures, delayed disability and hyperactivity in the body.

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