Metabolism

Homocystinuria

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Homocystinuria

  • Pathophysiology
  1. Inherited enzyme deficiency
  2. Effects
    1. Intimal fibrosis and Fiber destruction
      1. Destroys arterial elastic fibers
      2. Destroys Zonular fibers of the lens
    2. Fatty Liver infiltration
    3. Gliosis and focal necrosis of the Midbrain
  • Etiology
  1. Cystathionine B-synthase deficiency
  2. Methylene tetrahydrofolate reductase deficiency
  3. Methionine synthase defect
  4. Vitamin B12 transport or coenzyme defect
  • Signs
  1. Mental Retardation
  2. Seizures
  3. Cataracts
  4. Lenticular subluxation
  5. Sparse hair
  6. Arachnodactyly
  7. Pectus Excavatum
  8. Long and thin trunk, arms and legs
  9. Thromboembolic phenomenon
  • Labs
  1. Increased levels Homocysteine and methionine
    1. Present in CSF, Plasma and Urine