Concept explainers
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.
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
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Human Heredity: Principles and Issues (MindTap Course List)
- The nurse advised the mother of a 2-year old child to avoid encouraging excessive milk consumption (more than 3.5 cups of milk/day) by the infant because excessive milk consumption can lead to: Question 1 options: a) Biotin deficiency b) Vitamin C deficiency c) Iron deficiency d) Folate deficiencyarrow_forwardFasting 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 growtharrow_forwardA newborn is diagnosed with neonatal jaundice. The nurse explains to the parents that phototherapy is used to: a) Increase the production of bilirubin b) Break down bilirubin in the skin c) Promote liver function and bilirubin metabolism d) Prevent the development of kernicterusarrow_forward
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- Thirty-two-year-old Aniyah waited impatiently as Dr. Guffey reviewed Aniyah's test results. Aniyah had been feeling tired, stressed, and irritated. She was sweating so much that she stained several new blouses. She had frequent diarrhea and difficulty sleeping. She had a new job that demanded long hours, but she felt like something else was wrong. Aniyah's neck was swollen and her eyes seemed like they had doubled in size. When some of her co-workers started calling her “Pop Eyes” she decided to get checked out. Dr. Guffey noted that Aniyah's thyroid hormone levels were elevated, but her level of thyroid-stimulating hormone (TSH) was decreased. Dr. Guffey said that all of Aniyah's symptoms were consistent with a form of hyperthyroidism called Graves' Disease. And because the thyroid hormones have widespread and varied effects, the range of symptoms Aniyah experienced was more consistent with Graves' Disease, and not just from the stress of the new job. The protrusion of her eyes is…arrow_forwardWhich of the following is true? Select all that apply. a) Individuals who are lactose persistent continue to produce the enzyme lactase into adulthood b) Lactose intolerant individuals will become ill when digesting dairy products c)The rise of lactose intolerance is correlated with increased sales of milk products d) Lactose persistent individuals may still have other problems drinking milks, such as an allergy e) Lactose intolerance is not a genetic trait, rather you can develop it as a childarrow_forwardA newborn is receiving phototherapy for hyperbilirubinemia. The nurse monitors the newborn for potential complications of phototherapy, including: a) Bradycardia b) Hypertensionb c) Dehydration d) Hypothermiaarrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning