QuestionSBA
QuestionChoice
Yes, this is the correct answer. The GALT enzyme is most likely to be deficient in galactosaemia. There is an increase in the levels of galactose AND galactose-1-P, which directly indicates a transferase deficiency.
10007875
a
Galactose-1-phosphate uridylyl transferase (GALT)
QuestionChoice
No, this is not the correct answer. This would result in a very rare form of galactosaemia and would only result in the elevation of galactose within the bloodstream. It would not affect the galactose-1-P levels within the blood.
10007876
b
Galactokinase
QuestionChoice
No, this is not the correct answer. This enzyme is responsible for the conversion of UDP-galactose to UDP-glucose in the galactose metabolic pathway. It does not cause galactosaemia.
10007879
e
UDP-galactose 4' epimerase
QuestionChoice
No, this is not the correct enzyme. This enzyme is a key regulator in glycolysis. It does not cause galactosaemia.
10007878
d
Phosphofructokinase
QuestionChoice
No, this is not the correct answer. This enzyme is responsible for the conversion of galactose to galactitol resulting in reduced NADPH levels and subsequent cataract formation. It does not cause galactosaemia.
10007877
c
Aldose reductase
Concept
Chapter
2693
4124
Neonatal Jaundice
Topic
153
Paediatrics
14122
A 10-week-old male baby is brought to the GP by his mother, who expresses concerns around excessive vomiting and poor weight gain. On examination, the baby appears slightly jaundiced and there is an absent red light reflex indicative of cataracts.

The patient is diagnosed with an inherited condition known as galactosaemia which is characterised by an increase in plasma galactose and galactose-1-phosphate levels.

Which of the following enzymes is this infant most likely to be deficient in?
a