Argininosuccinic aciduria

Treatment

What are the first steps after a newborn screening test is positive for argininosuccinic aciduria?

If an infant has a positive newborn screening test for argininosuccinic aciduria, then further testing will be done to confirm that the child has the disorder. If the diagnosis is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in treating the disorder. Treatment with special diet that is low in protein should be started immediately. Other initial steps will depend on how the disorder is affecting a person and when the disorder was diagnosed if it was not diagnosed through newborn screening.

Families should see a genetic counselor to help understand the genetic aspects of this disorder. Families may consider contacting a support group. Genetic counselors can be found on the National Society of Genetic Counselors website in the United States, and in Canada at the Canadian Association of Genetic Counsellors website.

The National Urea Cycle Disorders Foundation provides information, support, guidance, referrals and networking among other programs for individuals and families affected by urea cycle disorders like argininosuccinic aciduria.

References
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Is there a treatment for argininosuccinic aciduria?

How long does my child with argininosuccinic aciduria have to be on a special diet?

Is nitric oxide a treatment for argininosuccinic aciduria?

Is there a treatment for argininosuccinic aciduria?

Treatment for argininosuccinic aciduria involves the long-term treatment of the disorder and managing a metabolic crisis or episode. People with this disorder cannot properly break down (metabolize) nitrogen, which the body gets from protein in the diet. This causes nitrogen, in the form of ammonia, to build up in the body. Doctors will place people on a low-protein diet. Individuals must remain on this diet for their lives and this can be challenging because the diet is very restrictive. Because protein intake is significantly reduced, people will need to receive a supplement that provides essential amino acids (building blocks of proteins) that they normally would get through eating protein. This includes the amino acid arginine. People with argininosuccinic aciduria cannot create arginine in sufficient levels. Doctors believe that supplementing the diet with arginine will help the body break down protein. Parents and individuals should work closely with a metabolic dietitian in planning their diets. To find a metabolic dietitian specializing in diets for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

Doctors may also use medications that are called nitrogen scavengers. These drugs create a different way to break down and remove nitrogen from the body; this is called alternate pathway therapy. These drugs include Ammunol®, Buphenyl®, and Ravicti®.

Infants, children or adults can have episodes where their ammonia levels are very, very high. This is called a metabolic crisis or episode, metabolic decompensation or a hyperammonemic episode. This is a medical emergency that requires prompt treatment. Individuals must stop eating or drinking any protein. They may receive intravenous fluids that contain fats, a type of sugar called glucose, and insulin. They may also receive nitrogen scavenger drugs.

Sometimes these treatments will not lower ammonia levels fast enough. This may require hospitalization and doctors may use dialysis to remove the ammonia from the blood. This is the quickest way of removing excess ammonia from the body. Several different methods are available and hemodialysis is considered the fastest. Dialysis is a procedure where a machine filters your blood outside of your body. Your blood is drawn through a tube and passes through the machine where ammonia or other harmful substances are removed. The blood is then returned to the body.

If people have high blood pressure, doctors may recommend that they limit the salt in their diets and take drugs that lower blood pressure. Doctors do not know how effective these drugs are, but they can be tried. Recent research into nitric oxide therapy has shown that giving people nitric oxide has helped to lower blood pressure. This treatment is still being studied.

In certain people, a liver transplant may be recommended. This is considered a treatment of last resort and is reserved for people with significant liver damage, or in whom other treatments have not worked and they continue to have metabolic episodes and hospitalizations.

Sometimes, despite early and aggressive treatment, infants or children or adults still develop certain problems like seizures, behavioral issues, or cognitive impairment, which means they have problems with memory, thinking, problem solving, learning and similar skills.

Argininosuccinic aciduria is a complex genetic disorder and requires lifelong treatment. Individuals should be seen by specialists who have experience treating metabolic disorders, such as a medical geneticist and/or metabolic nutritionist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. If you are looking for a metabolic clinic for treatment in the United States, you can search for the clinic or clinics in your state.

References
How long does my child with argininosuccinic aciduria have to be on a special diet?

People with argininosuccinic aciduria remain on a special diet for life. The diet is a low-protein diet. It is a very restrictive diet overall and doctors know that some patients have trouble staying on the diet. Doctors advocate that people with argininosuccinic aciduria follow their special diet for life, and that people who have given up on the diet start following again as soon as possible. Sometimes, despite early diagnose and prompt treatment, including following a low protein diet, individuals will still develop symptoms. Parents and individuals should work closely with a metabolic dietitian in planning their diets. To find a metabolic dietitian specializing in diets for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

References
Is nitric oxide a treatment for argininosuccinic aciduria?

People with argininosuccinic aciduria do not produce enough of the enzyme argininosuccinate lyase. This enzyme helps to create nitric oxide in the body. Nitric oxide is a compound that has many different functions in the body. Researchers are studying giving people nitric oxide as a treatment. In initial reports, nitric oxide therapy has shown some benefit. It has lowered blood pressure and resulting in mild neurological improvement. Researchers need to continue to study the disorder in clinical trials to determine if the therapy is safe and effective and how to best use it to treat people with argininosuccinic aciduria.

References

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