Treatment to Homocystinuria

A main goal of treatment for a person with homocystinuria caused by CBS deficiency is to control the concentration of homocysteine in the blood, thereby preventing symptoms of the disease. 

Medical professionals can help design a particular diet which includes vitamins and supplements such as vitamin B6, vitamin B12, folate and betaine. Patients are also advice to avoid certain types of food that contain amino acid methionine. It is important that this treatment begin in infancy so as to limit any damage to the child’s body and intellect. 

Unfortunately, there is no cure for homocystinuria. There are two forms of homocystinuria:

1) People who could respond to high doses of vitamin B6 (also known as pyridoxine) and it could be quite manageable.

2) People who could not respond to high doses of vitamin B6.Those who do respond to it will need eat a low-methionine diet for the rest of their lives. Most will need to be treated with trimethylglycine (a medication also known as betaine).

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

 

Daily intake of Betaine for Homocystinuria Patients

• A maintenance dose of 3 grams is usually taken twice daily in both adults and children. 
• In children, the dose usually starts low and is gradually raised to this level. For children under three years old, the starting dose is 100 mg/kg per day. The next week, the dose is raised to 200 mg/kg per day and so on until the maintenance dose is reached.
• All patients can receive dose increases until the level of homocysteine in the blood is very low.

http://www.webmd.com/vitamins-supplements/ingredientmono1008BETAINE%20ANHYDROUS.

aspx?activeIngredientId=1008activeIngredientName=BETAINE%20ANHYDROUS

Pictures: 

https://www.google.com.sg/search?q=betaine&client=firefox-a&hs=4YX&rls=org.mozilla:en-US:official&channel=sb&source=lnms&tbm=isch&sa=X&ei=8sjRU73kBIeyuATjmIK4Cg&ved=0CAgQ_AUoAQ&biw=1366&bih=633

 

Let's look at the Biochemistry part of Homocystinuria

  (S-adenosyl methionine)

1) Methionine -------------------------------> Homocysteine

• Homocysteine is formed from methionine through S-adenosyl methionine (sulfur containing amino acid)

      (Cystathionine Beta Synthase)

2) Homocysteine ------------------------------------> Cystathionine ----> Cysteine

• Enzyme Cystathionine beta synthase converts homocysteine to cystathionine which is then converted to cysteine

What is the problem in the pathway that causes the disorder?

• Due to deficiency of Cysthionine beta-synthase (CBS)

• Cysthionine beta-synthase catalyses the pathway during the catabolism of methionine to cysteine
• When there is deficiency of the (CBS), the step - homocysteine to cystathionine is blocked. Thus, leading to accumulation of homocysteine and methionine.

Life story of a homocystinuria patient

 

This video shows a life story on Benjamin, a homocystinuria patient. Look at how incredible his parents and Benjamin in tackling this problem. Their positive mindset had lead Benjamin to become a successful person. In addition, they are able to curb with Benjamin's disease.


http://youtu.be/pIoWUFIW-AI