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Biochemical pathway of metabolism of methionine

  1. Due to deficiency of cystathionine synthaseQ
  2. Diagnosis is usually made after 3 years of age when subluxation of the ocular lens occur. Q
  3. patient usually have fair complexions, blue eyes and peculiar malar flush
  4. Skeletal abnormalities resembling those of Marfan Syndrome (Tall thin with elongated limbs and arachnodactyly high arch palate)
  5. Progressive mental retardation is common. Psychiatric and behavioral disorders (50%)
  6. Convulsions present in 20% of patients
  7. Thromboembolic episodes involving both large and small vessels, especially those of BrainQ
  8. Generalized osteoporosis is the most common x-ray findingQ
  9. Elevation of both methionine and Homocystine in body fluids are the diagnostic laboratory findings.
  10. Treatment with high doses of vitamin B6 and restriction of methionine intake in conjunction with cysteine supplementation is recommended.

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