Question 67 · LEK · Inborn errors of metabolism
A 7-year-old boy is under psychiatric care due to learning disabilities and behavioral problems. Recently, neurologic deterioration that includes hearing loss and visual deficits has been recognized. The plasma concentration of very long chain fatty acids is elevated. What is the probable diagnosis?
- A. X-linked adrenoleukodystrophy.
- B. Maple syrup urine disease.
- C. Niemann-Pick disease.
- D. Krabbe disease.
- E. metachromatic leukodystrophy.
Hint
Raised very long chain fatty acids point to a peroxisomal disorder; match it with the patient's age, sex and course.
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