16 Questions
What was the initial symptom shown by Susan after birth?
Vomiting
What was found in Susan's urine?
Glucose
What was noticed in the lenses of Susan's eyes on the 10th day?
Cataracts
What led to the diagnosis of Galactosaemia for Susan?
Positive test for galactose in urine
What happened after Susan was put on a low-lactose diet?
Vomiting and diarrhoea stopped
What was found to be raised in Susan's blood?
Total sugar concentration
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
On what evidence was the diagnosis of Galactosaemia made?
Elevated blood sugar, presence of galactose in urine, and other symptoms (vomiting, diarrhea, and jaundice)
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.
What 3 enzymes are involved in the initial stages of galactose metabolism?
Galactokinase, Galactose-1-phosphate uridyltransferase (GALT), UDP-galactose-4-epimerase
Are these enzymes normally present in red blood cells?
No, they are typically not present in significant amounts in red blood cells.
Which of these enzymes could be missing in Susan?
Galactose-1-phosphate uridyltransferase (GALT)
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
Is galactose a normal constituent of urine?
No, under normal circumstances, galactose is not a typical constituent of urine.
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
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.
Explore a case discussion on galactosemia involving a newborn baby experiencing symptoms such as vomiting, diarrhoea, weight loss, jaundice, and feeding difficulties. Analyze the case history and learn about the metabolic disorder galactosemia.
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