Here’s What You Should Know About Homocystinuria

Homocystinuria is an extremely rare disorder.

It is estimated that only 1 in 344,000 people in the world have it. Homocystinuria is a genetically inherited. This means the child’s parents carry and then pass on the faulty gene. Both parents have to have the gene.

Also referred to as a cystathionine beta-synthase deficiency, this disorder affects many systems in the body. People with homocystinuria cannot metabolize or break down an amino acid called methionine correctly. Furthermore, it can lead to an accumulation of the protein homocysteine. The collection of that protein damages fibers in the muscles and is poisonous in brain tissue.

Thus, it is important for children to be diagnosed and treated as early as possible.

Those born with the disorder are at a high risk of having mental disabilities, seizures, and thrombosis. Thrombosis is defined as clotting of blood in the circulatory system.

Some likely symptoms include the following:

  • Glaucoma
  • Nearsightedness
  • Gradual decline in eye muscle function
  • Arterial swelling

High arched feet, long limbs, and knocked-knees are some of the physical characteristics of children who have this disorder.

Those diagnosed with homocystinuria have a low life expectancy, since there is no cure. But it can be effectively managed with a proper diet and medication. Approximately half of the people with homocystinuria can be treated with high dose vitamin B6 and no additional treatment. This can prevent symptoms from worsening.

You can read more here.


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