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Updated: Dec 25 2021


  • Snapshot
    • A fair skinned, blue eyes, mentallly retarded 5 year-old child is brought to the ER. He has a medical history showing failure to thrive and developmental delay. According to the mother the child developed a seizure disorder after he had a thrombolic episode involving the brain
  • Introduction
    • Results from abnormalities in the cysteine metabolism
  • ETiology
    • Genetics
      • The most classic form is autosomal recessive
        • incidence of 1/200,000
        • heterozygote carriers are symptomatic but to a lesser degree than homozygous
  • Presentation
    • Infants are normal at birth but soon show
      • developmental delay
      • failure to thrive
    • Symptoms mimic Marfan's Syndrome
      • fair skin
      • blue eyes
      • lens dislocation (downward)
      • arachnodactyly
      • thin bones
      • premature atherosclerosis with associated MIs and strokes
      • glaucoma
      • cataracts
      • mental retardation
      • seizures (20%)
  • studies
    • Serum blood testing demonstrating increased levels of methionine and homocysteine
    • Genetic testing can be performed but is much more costly
  • Treatment
    • Some patients respond to treatment with vitamin B6
  • complications
    • Thromboembolic events are more common in homocysteinuria than in the common population
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