An 11-year-old girl is evaluated for blurry vision. The patient was adopted internationally at age 9. She has no history of head or eye trauma or exposure to ionizing radiation. Motor and cognitive milestones have been achieved at the appropriate age. She has a good appetite and does not follow any specific diet. The patient takes no medications and has no allergies. Vaccinations are up to date. Vital signs are normal. She is at the 40th percentile for height and weight. Other than bilateral lens opacities, the rest of her examination is normal. Urine is positive for reducing substances. Deficient activity of which of the following enzymes is the most likely cause of this patient's eye condition?

Question

An 11-year-old girl is evaluated for blurry vision.  The patient was adopted internationally at age 9.  She has no history of head or eye trauma or exposure to ionizing radiation.  Motor and cognitive milestones have been achieved at the appropriate age.  She has a good appetite and does not follow any specific diet.  The patient takes no medications and has no allergies.  Vaccinations are up to date.  Vital signs are normal.  She is at the 40th percentile for height and weight.  Other than bilateral lens opacities, the rest of her examination is normal.  Urine is positive for reducing substances.  Deficient activity of which of the following enzymes is the most likely cause of this patient's eye condition?

Quizplus · Accepted Answer

Eductional Objective: Lenticular accumulation of galactitol in the lenses of patients with galactosemia can cause osmotic damage and development of cataracts.  Cataracts may be the only manifestation of galactokinase deficiency

An 11-Year-Old Girl Is Evaluated for Blurry Vision