Galactosemia Case Discussion
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Questions and Answers

What was the initial feeding method for Susan?

  • Breastfeeding (correct)
  • Formula milk based on soy
  • Formula milk based on cow's milk
  • Formula milk based on goat's milk

    • What was the glucose concentration in Susan's blood?

  • 5.0 mM (90 mg/dl)
  • 3.1 mM (56 mg/dl) (correct)
  • 2.5 mM (45 mg/dl)
  • 4.0 mM (72 mg/dl)

    • What was the total sugar concentration in Susan's blood?

  • 6.0 mM (108mg/dl)
  • 7.3 mM (132mg/dl)
  • 4.5 mM (81mg/dl)
  • 8.5 mM (153mg/dl) (correct)

    • What was noticed in the lenses of Susan's eyes on the 10th day?

    <p>Cataracts</p> Signup and view all the answers

    What was found in Susan's urine?

    <p>Galactose</p> Signup and view all the answers

    What does the term Galactosaemia mean?

    <p>It is a genetic metabolic disorder that affects the body's ability to process the sugar galactose, found in milk and dairy products</p> Signup and view all the answers

    On what evidence was the diagnosis of Galactosaemia made?

    <p>Confirmed by the presence of cataracts and positive response to a low-lactose diet</p> Signup and view all the answers

    What tissue/organ is responsible for the major part of galactose metabolism in humans?

    <p>Liver</p> Signup and view all the answers

    Are these enzymes normally present in red blood cells?

    <p>No, they are primarily found in the liver</p> Signup and view all the answers

    Which of these enzymes are involved in the initial stages of galactose metabolism?

    <p>Galactokinase, Galactose-1-Phosphate Uridylyltransferase, UDP-Galactose 4-Epimerase</p> Signup and view all the answers

    What percentage of fat does whole milk contain?

    <p>3.5%</p> Signup and view all the answers

    If the woman switches to drinking skim milk, how many additional grams of carbohydrates should she consume to make up for the loss of fat in a 250ml serving?

    <p>25 grams</p> Signup and view all the answers

    What was the BMI of Dana after gaining weight?

    <p>29</p> Signup and view all the answers

    What was Dana's goal BMI after deciding to go on a strict fat-free diet?

    <p>24</p> Signup and view all the answers

    What was Dana recommended instead of a strict fat-free diet?

    <p>Balanced diet with healthy fats</p> Signup and view all the answers

    What is Dana's current weight based on the given information?

    <p>83.8 kg</p> Signup and view all the answers

    How many kilograms should Dana lose to reach a BMI of 24?

    <p>14.2 kg</p> Signup and view all the answers

    What can be concluded from the value of Dana's current BMI compared to the reference values?

    <p>He is overweight</p> Signup and view all the answers

    Where could any extra energy have come from if the energy content of the carbohydrate and fat consumed by Dana was less than his total daily energy intake?

    <p>Protein intake</p> Signup and view all the answers

    Why didn't Dana's nutritionist recommend a fat-free diet?

    <p>Fat is an essential nutrient for the body</p> Signup and view all the answers

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