Homocystinuria Cystathionine beta synthase deficiency

  • Facts:
    Autosomal recessive disease caused by cystathionine synthase deficiency

    Patients normal at birth, then begin to develop developmental delays
  • History / PE:
    Marfan features (tall stature, joint hyperlaxity, long extremities) PLUS mental retardation, thromboembolic events, downward dislocation of the lens
  • Treatment:
    High doses of vitamin B6
  • Complications:
    Thromboembolic events (strokes) at any age
    Cataract formation
    Retinal detachment
  • Differential Diagnosis:
    Marfan's syndrome (upward dislocation of the lens)
    Phenylketonuria (musty odor urine)

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August 6th 2010