Question 1 · Medium
Jaundice, vomiting and poor weight gain since starting breast feeds are noted in a 3-week-old baby. The liver is enlarged, urine tests positive for reducing substances but negative with glucose oxidase strips, and slit-lamp examination shows central 'oil-droplet' lens opacities. Which enzyme is most likely deficient?
- AFructose-1,6-bisphosphate aldolase
- BGlucose-6-phosphate dehydrogenase
- CGalactose-1-phosphate uridyl transferase
- DGalactokinase (galactose kinase)
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Answer: C · Galactose-1-phosphate uridyl transferase
Classic galactosaemia is due to deficiency of galactose-1-phosphate uridyl transferase. Galactose from milk is reduced by aldose reductase in the lens to galactitol, which draws in water and produces an 'oil-droplet' cataract; liver failure, E. coli sepsis and vomiting follow milk feeds. Early removal of lactose from the diet can reverse the lens changes. Key point: Oil-droplet cataract with jaundice and urinary reducing sugar: classic galactosaemia (GALT deficiency); remove lactose early.
- A: Aldolase B deficiency (fructose intolerance) appears after fructose, not milk.
- B: G6PD deficiency causes haemolysis, not cataract and reducing sugar in urine.
- D: Galactokinase deficiency causes cataract alone, without liver disease or vomiting.