Homocystinuria is a condition caused due to the deficiency of cystathionine beta-synthase or methionine synthase. This enzyme is important in the processing of an amino acid called methionine. Most of the time, it is caused due to an autosomal recessive condition. However, sometimes it is caused due to the deficiency of vitamins B12, folate, and B6.
- Since it is a genetic disorder, there is nos specific treatment for this particular disease.
- It is usually prevented by a diet rich in vitamins B6, B12, and folate.
- They will need vitamin B6 supplements for the rest of their lives.
- Sulfur content in the food should also be maintained at a relevant level to reduce the synthesis of methionine in the body.
- Betaine can also be used to reduce the presence of homocysteine by converting it into methionine.
- The methionine created in this form is removed via body protein.
- This treatment is usually combined with a low protein disease, as the amount of conversion can be low.
- Generally, patients with this disease are recommended to have low protein and high-fat food to reduce the amount of methionine in the body.
- The life expectancy of the patient suffering from homocystinuria is reduced when the patient doesn't undergo proper treatment at its early stage.
Eye defects,Urinary tract issues
Vitamin B6 therapy,Low methionine diet
Dislocation of the lenses in the eyes,Nearsightedness,Abnormal blood clots,Osteoporosis, or weakening of the bones,Learning disabilities,Developmental problems,Chest deformities, such as a protrusion or a caved-in appearance of the breastbone,Long, spindly arms and legs