Definition
Homocystinuria is a metabolic disease characterized by methionine metabolism disorders, lens dislocation, thromboembolic events and mental retardation.
Symptoms
- Lens dislocation
- Thromboembolic events
- Mental retardation
- Osteoporosis
Reasons
CBS gene mutation.
Diagnosis
Plasma homocysteine, genetic testing.
Treatment
Pyridoxine, betaine, diet.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of thromboembolic event, emergency services should be consulted.
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