General Condition Information
- Argininosuccinate acidemia
- Argininosuccinate acidemia (argininosuccinase)
- Argininosuccinate aciduria
- Argininosuccinate lyase deficiency
- Argininosuccinate lyase deficiency (argininosuccinic aciduria)
- Argininosuccinic acidemia
- Argininosuccinic acidemia (ASA lyase deficiency)
- Argininosuccinic acidemia (ASA lyase deficiency)
- Argininosuccinic aciduria deficiency
- Arginosuccinate lyase deficiency
- It is estimated that thousands of babies have been born with argininosuccinic aciduria in the United States.
- Visit GeneReviews to learn more about how often this condition occurs.
What is Argininosuccinic aciduria
Argininosuccinic aciduria is an inherited (genetic) condition that prevents the body from removing ammonia properly. Ammonia is a waste product made when the body breaks down proteins. The body removes ammonia in a process called the urea cycle. Arginosuccinate lyase is an enzyme needed for the urea cycle.
In argininosuccinic aciduria, this enzyme is missing or is not made correctly. If your baby does not make enough working argininosuccinate lyase enzyme, the urea cycle does not work well and ammonia builds up.
High levels of ammonia are very toxic to the body, especially the nervous system and the liver. If untreated, this damage leads to the signs and symptoms of the condition. In severe cases, this condition can lead to coma if not treated early.
Newborn Screening and Follow-Up
Newborn screening for argininosuccinic aciduria is done using a small amount of blood collected from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
During screening, a special machine measures how much of certain substances (called amino acids) are in your baby’s blood. Amino acids are produced when your body breaks down proteins. Babies with argininosuccinic aciduria cannot break down two amino acids called citrulline and argininosuccinic acid. Babies with high levels of these substances might have argininosuccinic aciduria.
If your baby’s blood spot screening result for argininosuccinic aciduria is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result does not mean that your baby definitely has the condition. It does mean that your baby needs more follow-up testing. To learn more about screening results, visit the Blood Spot Screening Results page.
Your baby may need the following tests after an out-of-range screening result:
- Blood and/or urine tests
- Genetic testing using a blood sample
You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems soon after birth if they are not diagnosed and treated quickly.
False-positive newborn screening results for this condition are rare. However, screening samples collected too early (before the baby is 24 hours old) may affect the results of screening.
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Signs of argininosuccinic aciduria most often appear shortly after birth (within a few days of birth). Rarely, some babies have a mild type of argininosuccinic aciduria where signs do not start until childhood. These signs may be triggered by eating foods high in protein, going a long time without eating (prolonged fasting), illnesses, and infections.
Signs of the condition may include the following:
The condition is caused by a change in the ASL gene. This gene gives your body instructions for making arginosuccinate lyase. This enzyme helps remove the ammonia in your body produced when proteins are broken down.
Without a working ASL gene, your baby’s body cannot make enough working enzyme. As a result, their body cannot properly remove ammonia. High levels of ammonia are very dangerous to their body.
- Argininosuccinic aciduria is an autosomal recessive condition. Babies inherit it when each parent passes down a nonworking ASL gene to their baby. Only babies with two nonworking ASL genes—one from the mom and one from the dad—have this condition.
- People with one working copy and one nonworking copy of the ASL gene are called carriers.
- Carriers do not have or develop the condition. However, they may pass down a nonworking copy of the gene to their children.
- If two parents are carriers of a nonworking copy of the ASL gene, they have a 1 in 4 chance of having a child with argininosuccinic aciduria.
- Carriers for argininosuccinic aciduria often do not know they are carriers before having a child with the condition. In most cases, families have no history of the condition until the birth of a child with argininosuccinic aciduria.
- Parents who already have a child with argininosuccinic aciduria still have a 1 in 4 chance of having another child with argininosuccinic aciduria. This 1 in 4 chance stays the same for all future children.
- Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
Treatment and Management
It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.
Treatments may include the following:
- Drugs that help remove ammonia from the body
- Diet low in protein
- Arginine supplements to help lower ammonia levels
Children who receive early and ongoing treatment for argininosuccinic aciduria can have healthy growth and development.