Metabolism Module Week 3: Galactosemia Case Discussion
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Questions and Answers

What was the initial symptom shown by Susan after birth?

  • Vomiting (correct)
  • Jaundice
  • Diarrhoea
  • Weight loss

    • What was found in Susan's urine?

  • Amino acids
  • Glucose (correct)
  • Protein
  • Lactose

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

  • Cataracts (correct)
  • Redness
  • Blurry vision
  • Watery eyes

    • What led to the diagnosis of Galactosaemia for Susan?

    <p>Positive test for galactose in urine</p> Signup and view all the answers

    What happened after Susan was put on a low-lactose diet?

    <p>Vomiting and diarrhoea stopped</p> Signup and view all the answers

    What was found to be raised in Susan's blood?

    <p>Total sugar concentration</p> Signup and view all the answers

    What does the term Galactosaemia mean?

    <p>It is a condition caused by a deficiency of enzymes needed for galactose metabolism, leading to potential health issues if not managed properly</p> Signup and view all the answers

    On what evidence was the diagnosis of Galactosaemia made?

    <p>Elevated blood sugar, presence of galactose in urine, and other symptoms (vomiting, diarrhea, and jaundice)</p> Signup and view all the answers

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

    <p>The liver is the primary organ responsible for the major part of galactose metabolism in humans.</p> Signup and view all the answers

    What 3 enzymes are involved in the initial stages of galactose metabolism?

    <p>Galactokinase, Galactose-1-phosphate uridyltransferase (GALT), UDP-galactose-4-epimerase</p> Signup and view all the answers

    Are these enzymes normally present in red blood cells?

    <p>No, they are typically not present in significant amounts in red blood cells.</p> Signup and view all the answers

    Which of these enzymes could be missing in Susan?

    <p>Galactose-1-phosphate uridyltransferase (GALT)</p> Signup and view all the answers

    How could you determine which enzyme is missing or defective in Susan?

    <p>By conducting tests to measure the activity of each enzyme involved in galactose metabolism</p> Signup and view all the answers

    Is galactose a normal constituent of urine?

    <p>No, under normal circumstances, galactose is not a typical constituent of urine.</p> Signup and view all the answers

    What are the metabolic consequences of an absence of galactose 1-P uridyl transferase?

    <p>Buildup of harmful substances like galactose-1-phosphate, leading to cell damage and affecting energy production</p> Signup and view all the answers

    What is galactitol and how is it formed?

    <p>Galactitol is a sugar alcohol formed from the reduction of glucose by aldose reductase using galactose as a substrate.</p> Signup and view all the answers

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