Galactosemia Case Discussion

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20 Questions

What was the initial feeding method for Susan?

Breastfeeding

What was the glucose concentration in Susan's blood?

3.1 mM (56 mg/dl)

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

8.5 mM (153mg/dl)

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

Cataracts

What was found in Susan's urine?

Galactose

What does the term Galactosaemia mean?

It is a genetic metabolic disorder that affects the body's ability to process the sugar galactose, found in milk and dairy products

On what evidence was the diagnosis of Galactosaemia made?

Confirmed by the presence of cataracts and positive response to a low-lactose diet

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

Liver

Are these enzymes normally present in red blood cells?

No, they are primarily found in the liver

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

Galactokinase, Galactose-1-Phosphate Uridylyltransferase, UDP-Galactose 4-Epimerase

What percentage of fat does whole milk contain?

3.5%

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?

25 grams

What was the BMI of Dana after gaining weight?

29

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

24

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

Balanced diet with healthy fats

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

83.8 kg

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

14.2 kg

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

He is overweight

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?

Protein intake

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

Fat is an essential nutrient for the body

Explore a case study about a newborn with galactosemia, experiencing symptoms such as vomiting, diarrhea, weight loss, and jaundice. Analyze the clinical presentation and discuss the metabolic implications in a group teaching setting.

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