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How to Get Rid of Homocystinuria


Information of Homocystinuria

Homocystinuria is an hereditary learning disorder which is caused rarely. This Learning disability variable is sometimes treated by methionine restriction. Homocystinuria is heredity defect caused by deficiency of an enzyme (cystathionine synthetase) responsible for digesting methionine, an amino acid.

In absence or decreased level of the enzyme may cause the rise of homocysteine  in the blood and may excrete the high amount of homocysteine in the urine. This will lead to muscle problem and problems associated with central nervous system.

Cause of Homocystinuria

Autosomal recessive causing lack of cystathione synthetases

Symptom of Homocystinuria

  • Ectopia lentis,
  • Fine and fair hair,
  • Joint enlargement,
  • Skeletal abnormalities similar to Marfan's Syndrome;
  • Associated with thromboembolic episode

Diagnosis of Homocystinuria

Homocystinuria is diagnosed first by physical examination of the patient. If the physical feature examination suspects the possibility of homocystinuria, the following tests should be carried out to confirm or rule out homocystinuria.

X ray of the skeleton of body should be carried out to confirm spinal osteoporosis. An amino acid test should be carried out in blood and urine to access levels of methinine and homocyteine. The normal range of methionine level is less than 1 mg/dl. A liver biopsy and enzyme assay should be carried out to establish deficiency of enzymatic activity of cystathionine synthase. Ophthalmic examination should reveal nearsightedness or dislocated lens or any other problem such as glaucoma and cataracts. Skin biopsy should be carried out to confirm the reduced activity of cystathionine beta synthase. In new born babies, a screening test semiquantitative bacterial inhibition assay is carried out to measure the methionine concentration in dried blood spot.

Treatment of Homocystinuria

  • The treatment options for homocystinuria are very few which all end up with methionine restriction.
  • The diagnosis should be carried out at very early stage.
  • Healthy and supplemental diet can control the illness.
  • If homosystinuria is diagnosed in infants, should be given methionine restricted cysteine supplemental diets.
  • Some people may be given higher doses of vitamin B-6 whereas some people may require regular medicine.

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