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Metabolism Module Week 3: Galactosemia Case Discussion

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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?

Positive test for galactose in urine Signup and view all the answers

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

Vomiting and diarrhoea stopped Signup and view all the answers

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

Total sugar concentration Signup and view all the answers

What does the term Galactosaemia mean?

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

On what evidence was the diagnosis of Galactosaemia made?

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

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

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

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

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

Are these enzymes normally present in red blood cells?

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

Which of these enzymes could be missing in Susan?

Galactose-1-phosphate uridyltransferase (GALT) Signup and view all the answers

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

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

Is galactose a normal constituent of urine?

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

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

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

What is galactitol and how is it formed?

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