Introduction to Homocystinuria

Homocystinuria is an autosomal recessive trait, which means a child are only diagnosed with homocystinuria if he or she inherit the mutations from both parents.

This disorder prevents the body from processing a specific amino acid called methionine.

• Amino acids are the building blocks of protein and methionine is needed in various proteins.
• The main cause of this disorder is the genetic mutations that are present at birth.
• Cystathionine-ß-synthase (CBS gene) is responsible for the production of an enzyme which uses Vitamin B6 to metabolize amino acids such as serine and homocysteine.
• However, the mutations found in the CBS gene prevent it from functioning normally. This lead to a buildup of toxins that can damage the brain and vascular system.

Some symptoms of Homocystinuria includes:

1) Long limbs

2) Nearsightedness

3) Learning disabilities

4) Spidery fingers

5) Knock knees

Some other more serious symptoms includes:

1) Downwards dislocation of the lense (Ectopia lentis)

2) Mental retardation

3) Chest deformities

4) Skeletal deformities

http://www.healthline.com/health/homocystinuria#Overview1