Case Study: Madeline Madeline is a 28 year old who is married and is 3 months...

Case Study: Madeline

Madeline is a 28 year old who is married and is 3 months pregnant. Madeline has presented to her doctor because she is aware that Phenylketonuria (PKU) runs in her family and her husband commented recently that one of his cousins was also undergoing tests for PKU.

Madeline thinks she may pass this disorder to her baby so she wants some information about it and would like to know what she can do to ensure her baby will be well.

What is Phenylketonuria (PKU)? Is it inherited and how?
How does it interact with diet?
What are specific foods that need to be controlled in the case of PKU?
What are the risks to Madeline and her baby?

Expert Solution

Phenylketonuria (PKU) is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.

Normally, when a person eats foods that contain protein, special chemicals called enzymes break down these proteins into amino acids. The amino acids are then broken down further by other enzymes. A person with PKU does not have enough of the specific enzyme that breaks down the amino acid phenylalanine.

Foods made with GMP provide an alternative to the amino acid medical foods currently required in the PKU diet. Foods such as red meat, chicken, fish, eggs, milk, yogurt, cheese, nuts, soybeans and beans which are too high in protein should be avoided by a person having PKU

PKU is passed down through families. For a baby to have the disease, he or she must inherit the PKU gene from both parents. The father and mother may not have PKU or even know that PKU runs in their families. If a baby gets the gene from only one parent, he or she is a carrier of the PKU gene but does not have the disease.

Any woman with PKU who is planning to have a baby needs to be very careful to control her phenylalanine levels. Babies born to mothers who have high levels of phenylalanine are at risk for having a very small head, intellectual disability, growth problems, and heart problems.

Ps-An upvote would be highly appreciated

gladiator answered 2 years ago

Case Study, Chapter 27, Drug Therapy for Dysrhythmias Tom Drummel is a 28-year-old client who was...

Case Study, Chapter 27, Drug Therapy for Dysrhythmias Tom Drummel is a 28-year-old client who was diagnosed with ventricular dysrhythmias 2 years ago when he collapsed during a soccer game. He has had several additional episodes of ventricular dysrhythmias over the past 2 years, all precipitated by exercise. He has not had an episode since beginning his current medication, oral propranolol. Tom presents to the medical clinic with complaints of frequent dizziness. (Learning Objectives 2, 4, 6, 7, and 8)...

Assignment 5: Case Study - Protein Adequacy Erin is a 28-year-old professional woman who is 5...

Assignment 5: Case Study - Protein Adequacy Erin is a 28-year-old professional woman who is 5 feet 8 inches tall and vigilantly maintains her weight at 118 pounds by following a lacto-ovo (non-fat milk and egg whites only) vegetarian diet that supplies approximately 1200 calories a day. With her understanding that protein should provide between 10 and 35 percent of her daily calories, she reasons that her daily intake of 40 grams of protein from milk, eggs, legumes, and nuts...

Case study 3 L.G is a 5 year old boy who is being seen in the...

Case study 3 L.G is a 5 year old boy who is being seen in the pediatric clinic for a yearly physical: Subjective Data: Patient is accomplished by parient(mother) Mother states child takes no medication and is healthy Patient attends preschool Plays T-ball No smokers in the house Lives with mother and father Objective Data: Vital signs: T 37, P 124, R 12, BP 104/64 Weight : 35lb HT 52 inches Immunization: up to date Question: 1. What should the...

Case 1 Mrs. A is a 28-year-old woman married to her new husband for three years...

Case 1 Mrs. A is a 28-year-old woman married to her new husband for three years already. She’s eager to have a baby already. She has 4 children with the first marriage. History reveals that she’d been having infections in her reproductive system in her previous marriage. She has regular menstruation with three days duration of moderate to heavy flow. There are no accompanying manifestations. She likewise had been infected with sexually transmitted disease since her previous husband was unfaithful...

= Jan is a 28-year-old Clinical Laboratory Science college student. She is married and has 3...

= Jan is a 28-year-old Clinical Laboratory Science college student. She is married and has 3 young children. She leads a very stressful life and has a history of stomach ulcers. Jan has been on the following medications for many years: Prilosec (a proton pump inhibitor for acid reflux) Depo Provera (birth control which is injected every 3 months) She is concerned because her mother developed osteoporosis at a young age and is worried she may develop the same condition....

CASE STUDY Jane is a 32 year old married woman. She requested an urgent appointment to...

CASE STUDY Jane is a 32 year old married woman. She requested an urgent appointment to see you in your primary care setting after a recent car accident. She hit the car in front of her at a busy intersection resulting in damage to both cars, she reports even "though I felt weak I did the right thing", asking the other involved driver if he was ok and filing the necessary insurance paperwork. In the electronic health record (EHR) you...

Case Study: Suzy, a 28-year old social worker, is visiting the clinic today for a physical...

Case Study: Suzy, a 28-year old social worker, is visiting the clinic today for a physical examination. She states that she and her husband want to “start a family”. She was told when she was 22 years of age that she had anemia, and she was given iron tablets, but Suzy states that she has not taken them for years. She said she “felt better” and did not think she needed them. She denies any use of tobacco and illegal...

Case Study 5 – Neurological disorders – chronic Tegan Bailey is a 28-year-old woman with a...

Case Study 5 – Neurological disorders – chronic Tegan Bailey is a 28-year-old woman with a past medical history of generalised Tonic Clonic seizures following a traumatic brain injury 6 years ago. The seizures have been well controlled up until now with Carbamazepine (Tegretol) 500 mg daily. After participating in a fitness class at her local gym she was found in the change rooms lying on the ground unconscious. Questions: 5a. Discuss the difference between a Tonic Clonic seizure and...

Case Study : Eight months after an attack of acute glomerulonephritis, a 38 year old woman...

Case Study : Eight months after an attack of acute glomerulonephritis, a 38 year old woman was hospitalized for investigation of progressive bilateral leg edema. On examination, she was normotensive and exhibited edema of both ankles. Her face was pale and puffy and she admitted to .frequent minor intercurrent infections. A. What is the tentative diagnosis ? B. What biochemical analyses will be ?

Case Study – Diabetes Mellitus Mohinder, a 28 year old male, had been diagnosed with diabetes...

Case Study – Diabetes Mellitus Mohinder, a 28 year old male, had been diagnosed with diabetes mellitus when he was 12 years old. He started experiencing polydipsia, polyuria and polyphagia and his parents noticed that he was very lethargic and seemed continuously fatigued. They would occasionally detect the sweet, “fruity” smell of acetone on his breath. Their PA informed them that this was a sign of ketoacidosis associated with the diabetes. At the time, high fasting glucose levels and islet...

Question