Homocystinuria: Treatment, Procedure, Cost and Side Effects

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Homocystinuria is a disease where one of the enzymes needed to break down food is absent from the body. The disease crops up in young children and leads to growth defects. The enzyme deficiency leads to a buildup of a compound known as homocysteine in the blood. People with homocystinuria can also lead to heart and blood disorders in children.

Treatment for homocystinuria may include ingesting foods that do not contain certain amino acids. Taking supplements and vitamins can also aid in breaking down the excess homocysteine inside the patient’s body. Usually, the early detection and diagnosis of the disease can be very helpful in curing the disorder.

If detected early and treated, some of the complications may be stopped. In rare cases the results of the complication can also be reversed. Patients suffering from homocystinuria are more likely to undergo thromboembolic events prior to or after surgeries for the disease.

Pyridoxine is prescribed at a dose of 100-500 mg/day. This is the medication of choice, but patients can be divided further under pyridoxine sensitive and pyridoxine insensitive people. For people in the first group, pyridoxine is prescribed along with Vitamin B12 supplements and folic acid. However, it is also necessary to constantly check the homocysteine levels of the patient to judge the efficacy of the treatment.

In patients who are insensitive to pyridoxine, a low-methionine diet is prescribed as soon as the disease is diagnosed. Betaine supplementation may also be used to reduce the homocysteine levels in the blood.

An experienced neurologist can also come in handy during the treatment of homocystinuria. This is because patients may undergo strokes, which can lead to complications of the nervous system.

People who have a high homocysteine buildup in the body need to undergo this treatment. Most children are diagnosed with the disease quite early on in life. Treatment efficacy is greatly increased when the treatment starts early on. So, children with homocystinuria should undergo treatment as soon as possible.

People who do not suffer from homocystinuria, but may suffer from a deficiency of a different enzyme, are not eligible for the treatment. People who are pyridoxine-sensitive receive the pyridoxine treatment, while those who are insensitive to the drug, must undergo the methionine treatment.

Pyridoxine should be consumed within the recommended levels only. If it is taken in higher dosages, several side effects may be felt. In some people pyridoxine medication can cause headache, loss of appetite, sleepiness, tingling and stomach pain. Taking high doses of pyridoxine for a long time can cause complications in the brain and may even result in nerve damage.

People suffering from homocystinuria cannot be completely cured of the disease. Instead, with proper medication and diet, the disease can be effectively managed. Since there is no permanent cure for the condition, there are no post treatment guidelines for the same. Patients with the disease will have to curtail their lifestyle in such a way that the condition does not get complicated.

The treatment has to be continued throughout the patient’s life. Homocystinuria cannot be cured completely, but its symptoms and issues can be controlled through maintenance of a proper diet. Medication is also highly effective in keeping the condition from deteriorating. However, patient’s will have to keep on taking the medications forever.

Each doctor visit can range from anywhere between Rs. 500 and Rs. 1,000. Treatment throughout life may range from Rs. 1,00,000 to Rs. 5,00,000. So, a person may spend anywhere between Rs. 3 Lacs and Rs. 6 Lacs for treating Homocystinuria.

Results are not permanent and stopping the medication along with the diet can alleviate the symptoms. It is important to stay on the medications prescribed and the diet suggested by the doctor to keep the condition in check.