Argininemia

Argininemia is treated with a special diet. This diet is a low-protein, arginine-restricted diet. Arginine is an amino acid, a building block of protein. People with argininemia cannot properly break down (metabolize) nitrogen, which the body gets from protein in the diet. Because they cannot properly break down protein, ammonia, arginine and other metabolites (byproducts of metabolism) build up in the body. 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 with argininemia will need to receive a supplement that provides essential amino acids that they normally would get through eating 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 help to remove nitrogen from the body. 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®.

Unlike other urea cycle disorders, most infants and children with argininemia do not have severe episodes of excess ammonia in the body. A mild episode can be treated with intravenous fluids. Sometimes, nitrogen scavenging drugs may also be used.

If ammonia is highly elevated in the body, this is called a hyperammonemic crisis. It may also be called a metabolic crisis. This is a medical emergency and will require hospitalization. Sometimes, doctors must 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.

Seizures can usually be effectively treated with anti-seizure (anti-convulsant) medications.

Some people with argininemia developed damage and scarring of the liver (cirrhosis). People with argininemia have been treated with a liver transplant. A liver transplant has corrected the underlying genetic defect in argininemia. It restores the missing enzyme, arginase. However, a liver transplant cannot repair damage to the brain that has already occurred. There are also significant risks. Risks involved with a transplant procedure include the body rejecting the transplant (graft versus host disease), the transplant failing, serious infection, and other potential complications. Parents should make decisions about this treatment in close consultation with doctors and other medical personnel who are experienced with argininemia.

People with argininemia must continually have their blood monitored to measure the amount of arginine and ammonia in the blood. The function of the liver must also be tested periodically to ensure that liver function is not affected. Different doctors and different hospital may do this testing differently and how often this testing is done can vary as well. The amount of time between testing will depend on several factors. The amount of protein a person with argininemia can tolerate will be different based on their ages, how severe their disorder is, how quickly they're growing, and the whether they have another illness like the flu. If people with argininemia become sick this may put stress on the urea cycle. If a child or person with argininemia gets sick, like a viral illness, they should be seen immediately by a doctor and have their ammonia and arginine levels checked.

Parents of children with argininemia and people with the disorder should work with their doctors and entire medical team so they can work out a system for monitoring blood arginine and ammonia levels. Parents should consider working with their children so it will easier one day for the children to take over their own monitoring.

People with argininemia remain on a special diet for life. When people stop following the diet, they will begin to experience problems, even if those problems aren't obvious. Some of the neurological damage associated with argininemia cannot be repaired once it has happened. The diet is a low-protein, arginine-restricted diet. It is a very restrictive diet overall and doctors know that some patients have trouble staying on the diet. Doctors strongly advocate that people with argininemia follow their special diet for life, and that people who have given up on the diet start following again as soon as possible. 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.

People with argininemia must follow a special, low-protein diet for their entire lives. This is because a certain building block of protein, called arginine, cannot be broken down in the bodies of people with argininemia. For this reason, it is important to avoid arginine and limit protein in the diet for a person's entire life. People with argininemia must also eat special medical foods to help make up for nutrients that they miss getting because of their special diet. There are special medical foods created specifically for people with amino acid disorders. The National Urea Cycle Disorders Foundation has information on where to get special medical foods. Current guidelines strongly recommend that people with argininemia follow a special diet including using supplemental medical foods for their entire lives.