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Review Question - QID 106641

Amino Acid Catabolism Overview Defects in specific amino acid catabolism QID: 106641 (M1.BC.15.74)
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QID 106641 (Type "106641" in App Search)
A 4-year-old boy presents to the opthalmologist for a down- and inward dislocation of the lens in his left eye. On physical exam, the boy has a marfanoid habitus and mental retardation. Biochemical tests were performed to locate the exact defect in this boy. It was found that there was a significant reduction of the conversion of 5,10-methyltetrahydrofolate to 5-methyltetrahydrofolate. Which of the following is the diagnosis?
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