Question 1 · Easy
Which inborn error of metabolism causes premature ovarian insufficiency in most affected girls despite good diet control?
- AClassic galactosaemia
- BMaple syrup urine disease
- CPhenylketonuria
- DGaucher disease
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Answer: A · Classic galactosaemia
In classic galactosaemia (GALT deficiency), toxic galactose metabolites damage ovarian follicles, and most girls develop POI even when the diet is well controlled.
- B: MSUD does not typically cause POI.
- C: PKU does not cause POI when treated.
- D: Gaucher disease does not typically cause POI.
Remember this
Classic galactosaemia causes POI in most affected girls despite diet.