Argininemia

Carriers of an altered ARG1 gene that causes argininemia do not develop symptoms of the disorder. They are at risk of passing the disorder on to their children if their partner is also a carrier. A genetic counselor in your area can help you understand more about your risk and the testing options for carriers.

According to the medical literature, there is evidence that early diagnosis and prompt treatment (before symptoms begin) can prevent the neurological problems associated with argininemia. There are reports of people who remained symptom-free when treated from birth, with the oldest person being more than 35 years old. If symptoms were already present when treatment was started, good results can still be achieved. This is true if treatment was started before significant problems have developed. The progression of neurological disease can be stopped and some skills can be reacquired. However, not all infants and children will respond to treatment and treatment cannot repair damage to the brain that has already occurred. Consequently, life expectancy will depend on several factors including when the disorder was first diagnosed and what symptoms had already developed. Also, argininemia can affect one person very differently from how it affects another person. It is difficult to make predictions about how the disorder will progress for an individual. Although less common, there are very severe forms of argininemia, which can be life-threatening early in life.

Talk to your doctors and entire medical team about your or your child's diagnosis and individual situation. The National Urea Cycles Disorders Foundation provides information, support, advice and networking options for people with urea cycle disorders like argininemia.

Argininemia is a genetic condition and there is no cure. A person will never outgrow the disorder. People with this disorder will have to be on a special diet and receive medications throughout their lives.

When infants and children have a chronic disorder like argininemia, it can demand a lot of time and focus from parents. As with similar disorders, it is easy for healthy siblings to feel as if they have been pushed aside. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy, anger, and high levels of anxiety. Parents can work with siblings by having clearly defined roles and responsibilities within the family structure. Siblings can help with the care of their sick sibling. Parents are encouraged to make time for activities, especially for healthy siblings, and to talk with and encourage healthy siblings to address their concerns and feelings. Some children may benefit from support outside of the immediate family including therapists or doctors. The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs.

Taking care of someone with a long-term or chronic condition can be tiring and challenging and this is no different for parents or other caregivers of people with argininemia. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at the Caregiver Action Network. This organization works to improve the quality of life for people who care for loved ones with chronic conditions, disabilities, disease, or the frailties of old age. Support groups can also help provide support and advice for caregivers. Support groups for argininemia include, The National Urea Cycle Disorders Foundation.

If untreated, argininemia can cause neurological symptoms including intellectual disability. Most infants do not show any symptoms until 2-4 years of age. Intellectual development may slow and these children may have delays in reaching developmental milestones. If these children remain untreated, severe intellectual disability can result. If treatment is started before symptoms begin, some people have remained symptom-free well into adulthood. If treatment is started early after symptoms begin, it can stop neurological decline and some children may regain some skills. However, treatment cannot repair damage that has already occurred and not all children will respond to treatment.

Talk to your doctor and medical team about your child's development. A pediatric neurologist should be part of the medical team. The Arc is an organization dedicated to providing support and information for people with intellectual and developmental disabilities.

Most children with argininemia do not show symptoms until 2-4 years of age. Some will show symptoms as newborns. If treatment is started from birth, they may remain symptom-free. If symptoms develop they include neurological problems that can include intellectual decline. Treatment can stop neurological problems from getting worse and some children may regain lost skills, but treatment cannot repair neurological damage that has already happened and not all children respond to treatment.

The first few years of a child's life are critically important to a child's development. States have federally-funded early intervention programs that support families that have concerns or issues with their children's development up to the age of three. Some states will continue to offer early intervention programs beyond the age of three. Other states will transition a child into school-based programs that can be provided at home. In some states, a child may be eligible for early intervention services at no charge. Other states may charge a fee, depending on the agencies involved.

Talk to your doctor and medical team about early intervention programs in your state and whether these resources will appropriate and beneficial for your child. The Centers for Disease Control and Prevention (CDC) provide information about early intervention programs and assistance.

Some children with argininemia may have intellectual disability or experience delays in reaching developmental milestones. This can make school more challenging. These children may need special accommodations in school. They are eligible for an individual education plan (IEP) or a 504 plan.

An IEP is a document that helps to guide the education of a child with a disability or special needs and ensures that they have access to the same educational opportunities as all children. The plan is individualized for each student.

A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. This plan is important for making sure a student with galactosemia can maintain their diet while fully participating in school with the same access to educational opportunities as all children.

Even children who received an early diagnosis and prompt treatment and do not have symptoms are eligible for a 504 plan. A 504 plan organizes any unique requests needed by a child to fully participate in school. This plan is important for making sure a student with argininemia can maintain their diet in school while fully participating in school with the same access to educational opportunities as all children.

Parents should talk to their child's school system and learn what they need to do for their children. Parents are encouraged to provide a school with a packet of information on argininemia and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals. The National Urea Cycle Disorders Foundation has a guide for educating school officials called, An Educator's Guide to UCD.

The U.S. Department of Education has information on individual education plans and on 504 plans. Global Genes, a rare disease advocacy organization, has a RARE Toolkit that advises parents on advocating for their children at their school.

Children who have argininemia may benefit from psychological support. This means that they should receive help for any psychological or social problems they may have. Some children may feel different because they must be on a restrictive diet. Others may have learning disabilities or other problems that affect their performance in school. This can cause them to feel different from their friends and can lead to feelings of isolation, anxiousness, depression and frustration.

These are normal feelings for individuals and families dealing with a chronic illness. Talk to your doctor and medical team about how to deal with such issues. Parents and therapists can help children deal with these issues. It is also beneficial to talk to other people and families that are dealing with the same challenges. The National Urea Cycle Disorders Foundation puts people and families who have the same diagnosis in touch with one another. They offer a Mentor Program for newly-diagnosed families as well.

Some people with argininemia may choose to stop following their diet as they get older. This is called poor compliance. A low protein, arginine-restricted diet, is very restrictive and some people have trouble staying on the diet. Children, particularly older children, may stop following the diet because they are embarrassed or their classmates may make unkind comments. Children or teenagers who struggle with compliance should talk to their parents, physicians and a psychologist to work through these issues.

Sometimes people stop following the diet because it's working well and they feel better. They may start to think that they do not need to follow the diet anymore or 'cheat' on the diet more and more often. However, the less they follow their diets, the more arginine and other compounds will keep building up in their bodies. The special diet to treat argininemia must be followed for life. Even if someone feels better and their symptoms improve, they need to continue to follow their treatment plan as developed by their physician and medical team in order to continue feeling better.

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.

Argininemia can be classified as a urea cycle disorder or an amino acid disorder. People with this disorder have problems with an enzyme called arginase I. This enzyme is missing, deficient, or damaged. The arginase I enzyme has a job. It is part of the urea cycle. This cycle is series of biochemical reactions that occur in the body to help to break down (metabolize) and then remove excess nitrogen from the body. Nitrogen is obtained from the diet and is a normal waste product of the metabolism of protein. Nitrogen is broken down into a compound called urea that is excreted from the body in the urine. People with argininemia cannot properly break down the arginine, which is a step in the urea cycle. Because they cannot break down arginine and cannot completely convert nitrogen into urea, arginine and nitrogen (in the form of ammonia) build up in the body. Arginine, which is found in elevated levels in people with argininemia, is an amino acid. Amino acids are chemical 'building blocks' the body uses to produce certain proteins that are required for proper growth and development. Therefore, argininemia is both a urea cycle disorder and an amino acid disorder.

People with argininemia should be able to travel safely and enjoyably. People or families need to be prepared when traveling, particularly when traveling by air or internationally. If you are traveling and you or your child has argininemia, you may want to bring a letter from your physician explaining the medical necessity of any food or formula you are bringing with you. You may also carry information about their condition when they travel in case there is a medical emergency. People with argininemia should have an emergency card that explains their disorder. If you are traveling abroad, you may want to contact your medical team to see where appropriate food and formula can be obtained and whether your destination has adequate medical facilities.

How families travel with a child with argininemia can also depend on the amount of neurological problems a child has. Support groups and other parents or families with argininemia can offer advice and information and how to make traveling easier and safer. Support groups for argininemia include, The National Urea Cycles Disorders Foundation.

Some people with argininemia find it challenging when it's time to move (transition) from pediatric to adult health care services. One big change is leaving a doctor with whom you have a long-standing relationship, a doctor who is familiar with both your condition and you. It can feel like 'starting over' as you'll begin to work with new doctors and a new medical team. Another challenge in moving to adult care is that young adults must take greater responsibility for their health. They must manage their disorder and manage their medications. They must bear greater responsibility for decisions concerning their health. Adolescents should be encouraged to make decisions about their care as early as possible to make this transition easier. Some hospitals have programs to help children with chronic disease transition to adult care services.

Support groups may also provide information or support on how to move from pediatric care to adult care services and what to expect. The National Urea Cycle Disorders Foundation provides information and support for families dealing with argininemia.

Individuals with argininemia should avoid a drug called valproic acid. This is an anti-seizure medication, also called an anti-convulsant. This drug may elevate ammonia levels in people with urea cycle disorders. Unlike other people with urea cycle disorders, those with argininemia should not take receive supplemental doses of the amino acid arginine. While arginine is helpful for other urea cycle defects, this amino acid is already elevated in people with argininemia.

A patient registry is a database set up by researchers that contains information about patients with a particular disorder or group of disorders. This information helps researchers learn about a disorder, plan or study treatments, how a disorder progresses or affects people and other information. Patient registries require that patients either directly or through their doctor submit personal information. There is a patient registry for urea cycle disorders called The Urea Cycle Disorder International Patient Registry. The European Registry and Network for Intoxication type Metabolic Disorders has a European registry for urea cycle disorders.

Talk to a genetic counselor about the pros or cons of participating in a patient registry. Genetic counselors can be found on the National Society of Genetic Counselors website.

The cost of special medical food for argininemia can be different for one person or family when compared to another. There are many factors to consider. The supplier, the specific formula and medical foods, whether a person has insurance, whether the insurance plan will cover special medical foods, how much protein a person can handle in their diet, and other factors. For this reason, it is difficult to give an approximation about how much the use of medical food product would cost any given person. The cost is much more than it would be feed someone without argininemia, and can be very expensive for an average family.

In the 2013 session of Congress, a bill has been introduced call the Medical Foods Equity Act. It has not been passed. This bill would require all federal programs to cover the cost of medical foods (formula and foods modified to be low in protein) for children and adults with argininemia and similar disorders that require a special diet and supplemental medical foods.

Contact the National Urea Cycle Disorders Foundation (NUCDF) to learn about how much an arginine-restricted diet and supplemental medical foods may cost your family. The NUCDF may also have advice for dealing with insurance companies, information on state laws and policies on medical food and formula coverage, and links to the best places to find these products.

People with argininemia must severely restrict the amount of protein in their diets. Their diet may be called an arginine-restricted diet. Arginine is an amino acid and it builds up in large amounts in people with argininemia. Amino acids a building blocks of protein. Although an arginine-restricted diet is very restrictive, everyone needs some amount of protein. The body gets a lot of its amino acids through its diet. If the body cannot get enough amino acids through its diet, the body will begin to break down its own protein and this will lead to an increase in ammonia in the blood and tissues, and ammonia in high enough amounts is toxic to the brain.

So, when treating a urea cycle disorder like argininemia, doctors and metabolic dietitians must balance the need for some protein against a person's ability to break down protein. The amount of protein a person with argininemia can tolerate can be different in one person when compared to another person. Many times, the amount of protein a person can tolerate will increase during infancy and childhood as they grow older.

One study of 6 people with argininemia found an increased risk of a coagulation (blood clotting) disorder even if there were not other signs of a coagulation disorder. Because this study is so small, we are not able to say what the risk might be for all people with argininemia to have a coagulation disorder. However, you might want to speak with your doctor about monitoring you or an affected family member for a coagulation disorder.