Homocystinuria

external

• Synonyms

  • Cystethionine synthetase deficiency
  • Beta cystathione synthetase deficiency

• Causes

  • Methylenetetrahydrofolate reductase deficiency

• Effects

  • Mental retardation
  • Marfan syndrome
  • Downward dislocation of lens
  • Arterial thrombosis
  • Coarse hair
  • Fair skin
  • Osteoporosis
  • Livedo reticularis

• Parents

  • Aminoacidopathies

• Treatments

  • Pyridoxine

• Description

  • "Cystethionine synthetase deficiency. Does not give aortic dilatation. Rx pyridoxine 50% have mental retardation"