What is the treatment for homocystinuria?
What is the treatment for homocystinuria?
There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). Those who do respond will need to take vitamin B6, B9 (folate), and B12 supplements for the rest of their lives. Those who do not respond to supplements will need to eat a low-methionine diet.
What vitamin helps people suffering from homocystinuria and how does it help?
Diagnosing homocystinuria Treatment may include high doses of vitamin B6 (pyridoxine), a special diet, advice and sometimes medication. With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives.
Which vitamin is used in the treatment of homocystinuria?
Treatment. No specific cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B6 (also known as pyridoxine). Slightly less than 50% respond to this treatment and need to take supplemental vitamin B6 for the rest of their lives.
Which vitamin deficiency causes homocystinuria?
Homocystinuria due to deficiency of CBS deficiency is inherited in an autosomal recessive pattern. The disorder is caused by changes (mutations) of a gene that regulates the production of the CBS enzyme.
What is the most common cause of homocystinuria?
Mutations in the CBS gene cause the most common form of homocystinuria. The CBS gene provides instructions for producing an enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for converting the amino acid homocysteine to a molecule called cystathionine.
What are the symptoms of homocystinuria?
What Are the Symptoms?
- Pale hair and skin.
- Abnormally-shaped chest.
- Slow weight gain and growth.
- Severe nearsightedness and lens dislocation (which can lead to blindness)
- Tall, slender build.
- Long, skinny fingers.
- Weak bones.
- Blood clots (increasing the risk for stroke and heart disease)
How do you stop homocystinuria?
There’s no cure for homocystinuria. High doses of vitamin B-6 are a successful treatment for about half of the people with this disorder. If you respond well to this supplementation, it’s likely that you’ll have to use daily vitamin B-6 supplements for the rest of your life.
Where is homocystinuria most common?
The most common form of homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. The disorder appears to be more common in some countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in 6,400), and Qatar (1 in 1,800).
What kind of diet do you need for homocystinuria?
People who have the most severe form of homocystinuria are put on a special protein -restricted diet to reduce the blood levels of homocysteine and methionine. In addition, they may be given supplements including vitamin B6, vitamin B12, folate and betaine.
What to do if your child has homocystinuria?
It may lessen the risk of eye and bone problems and blood clots. If vitamin B6 doesn’t work, your child will start a low-methionine diet. It usually needs to be continued for life. A dietitian with expertise in amino acid disorders can help make an eating plan from infancy and beyond.
What happens to a person with homocystinuria?
With treatment, people with the most severe form of homocystinuria can have normal growth and development. Some may still have eye problems or blood clots and should be monitored 2). Blood clots can be serious and cause organ damage.
What can I take to lower my homocysteine level?
Betaine and folic acid. These supplements can lower dangerously high homocysteine levels. Children who don’t get better with vitamin B6 often respond well to betaine. Vitamin B12 and L-cysteine. HCY may be causing low levels of these needed substances. B12 is given as a shot.