Homocystinuria: Causes, symptoms, and tests

Homocystinuria is a genetic disease that is passed on in an autosomal recessive manner. This process means two copies of an irregular gene must be present for a disease to develop.

In this article, we examine what homocystinuria is, what causes it, and what symptoms it produces. We also look at diagnosis and treatment of the disease.

What is homocystinuria?

In homocystinuria, the body is unable to breakdown certain proteins. Specifically, the condition affects an amino acid called methionine.

Amino acids are essential human building blocks. Methionine is a naturally occurring protein that babies need for growth and adults need for regulating nitrogen in the body. All amino acids contain nitrogen, making nitrogen an important part of human DNA.

There are several different forms of homocystinuria, which are set apart by their symptoms.

The most common form is called cystathionine beta-synthase (CBS). CBS differs from other types of homocystinuria because it causes the following symptoms:

  • nearsightedness
  • dislocation of the front eye lenses
  • increased blood clotting
  • brittle bones or other skeletal abnormalities

CBS can also cause developmental delays and learning disabilities.

Other less common forms of homocystinuria may cause a variety of other symptoms.

Read the rest at Medical News Today.


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