Podcast
Questions and Answers
What was the initial symptom shown by Susan after birth?
What was the initial symptom shown by Susan after birth?
- Vomiting (correct)
- Jaundice
- Diarrhoea
- Weight loss
What was found in Susan's urine?
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?
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?
What led to the diagnosis of Galactosaemia for Susan?
What happened after Susan was put on a low-lactose diet?
What happened after Susan was put on a low-lactose diet?
What was found to be raised in Susan's blood?
What was found to be raised in Susan's blood?
What does the term Galactosaemia mean?
What does the term Galactosaemia mean?
On what evidence was the diagnosis of Galactosaemia made?
On what evidence was the diagnosis of Galactosaemia made?
What tissue/organ is responsible for the major part of galactose metabolism in humans?
What tissue/organ is responsible for the major part of galactose metabolism in humans?
What 3 enzymes are involved in the initial stages of galactose metabolism?
What 3 enzymes are involved in the initial stages of galactose metabolism?
Are these enzymes normally present in red blood cells?
Are these enzymes normally present in red blood cells?
Which of these enzymes could be missing in Susan?
Which of these enzymes could be missing in Susan?
How could you determine which enzyme is missing or defective in Susan?
How could you determine which enzyme is missing or defective in Susan?
Is galactose a normal constituent of urine?
Is galactose a normal constituent of urine?
What are the metabolic consequences of an absence of galactose 1-P uridyl transferase?
What are the metabolic consequences of an absence of galactose 1-P uridyl transferase?
What is galactitol and how is it formed?
What is galactitol and how is it formed?
