Which vitamin is used in the treatment of homocystinuria?

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.

What is the purpose of the pyridoxine challenge diagnostic test?

Pyridoxine (B6) challenge test. Once the diagnosis of homocystinuria caused by deficiency of cystathionine β synthase (CBS) is established, a pyridoxine challenge to measure vitamin B6-responsiveness is used to determine which phenotype is present.

How is CBS mutation treated?

People with homocystinuria due to CBS deficiency who do not respond to vitamin B6 are treated with a special, protein -restricted diet to help lower the amount of methionine and homocysteine in their bodies. In addition, they may be given supplements, such as vitamin B12, folate, and betaine.

Is there a cure 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 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 gene causes homocystinuria?

Certain amino acids, which are the chemical building blocks of proteins, are essential for proper growth and development. In most cases, homocystinuria is caused by reduced activity of an enzyme known as cystathionine beta-synthase and this results in CBS deficiency.

What are the side effects of pyridoxine?

Common side effects of pyridoxine include:

• Decreased folic acid.
• Decreased sensation.
• Headache.
• Loss of appetite.
• Nausea.
• Numbness and tingling.
• Sensory nerve damage.
• Sleepiness.

What is pyridoxine used for?

Pyridoxine, vitamin B6, is required by your body for utilization of energy in the foods you eat, production of red blood cells, and proper functioning of nerves. It is used to treat and prevent vitamin B6 deficiency resulting from poor diet, certain medications, and some medical conditions.

Is homocystinuria recessive or dominant?

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 CBS defective gene?

CBS: (Cystathionine Beta Synthase) This enzyme converts homocysteine to cysteine and glutathione. This is an upregulation defect; it regulates the enzymes that help to convert homocysteine into glutathione, a major antioxidant. Mutations in the CBS genes will produce more sulfur end products from the methylation cycle.

Is homocystinuria a disability?

Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia .

Is Sotos Syndrome a disability?

People with Sotos syndrome often have intellectual disability, and most also have behavioral problems.

What kind of drugs are used to treat homocystinuria?

One of the drugs used is pyridoxine or vitamin B6. About half the people affected by homocystinuria are very responsive to vitamin B6 and do not need any other special treatment. These people are said to be “pyridoxine responsive”.

How is homocystinuria treated as an adult in Canada?

About 1 out of 200 000 babies are born with homocystinuria each year in Canada. Homocystinuria can be treated with drugs, with diet or with a combination of both. One of the drugs used is pyridoxine or vitamin B6. About half the people affected by homocystinuria are very responsive to vitamin B6 and do not need any other special treatment.

Is there a cure for homocystinuria or intellectual disability?

Intellectual disability or mental illness is also possible. 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.

What’s the best way to treat homocysteine deficiency?

The treatment of Homocystinuria varies depending on the type. The goal of treatment is to decrease high Homocysteine blood levels to prevent or reduce further harm to the body. We’ll talk first about treatment for people with CBS Deficiency or Classical Homocystinuria.