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Argininemia/Arginase Deficiency) NEWBORN SCREENING FACT SHEET ARG 1 Deficiency (Argininemia/Arginase Deficiency) What is it? young infants but are not common. Some of the Arginase deficiency is one type of amino acid first symptoms of high ammonia are: disorder. People with this condition have 1) Poor appetite. problems removing ammonia from the body. 2) Excess sleepiness or lack of energy. Ammonia is a harmful substance. It is made 3) Irritability. when protein and its building blocks (amino 4) Vomiting. acids) are broken down for use by the body. If untreated, other symptoms can follow: What causes it? 1) Muscle weakness This is one of a small number of conditions 2) Decreased or increased muscle tone called urea cycle disorders (UCD). 3) Breathing problems 4) Problems staying warm It occurs when an enzyme called arginase is 5) Seizures either missing or not working properly. This 6) Swelling of the brain enzyme’s job is to help break down the amino 7) Coma, and sometimes death acid arginine and to help remove ammonia from the body. Sometimes, symptoms of arginase deficiency do not begin until later in infancy or childhood. When arginase is not working, arginine, along Common effects in older infants and children can with ammonia, can build up in the blood. This include: can have serious effects on a child’s growth, 1) Poor growth. learning and health. 2) Small head size. 3) Hyperactivity. If arginase deficiency is not treated, what 4) Behavior problems. problems occur? 5) Learning disabilities. The effects of this condition vary from person to 6) Avoidance of meat or other high-protein foods. person. Symptoms can start right at birth or not 7) Vomiting and excessive sleepiness. until later in childhood. Many children have their first symptoms around age 1. Effects in infants Episodes of high ammonia, described above, can include: happen rarely. If they occur, they are more likely 1) Poor growth. to happen: 2) Learning delays. 1) After going without food for a long period of 3) Poor coordination and balance. time. 4) Fussiness or illness after eating high protein 2) During an illness or infection. food. 3) After high-protein meals. Episodes of illness caused by high ammonia levels in the blood can sometimes occur in ARG 1 Deficiency 1 of 5 May 2008 What is the treatment for arginase Medical Foods and Formula deficiency? There are medical foods such as special low- Your baby’s primary doctor will work with a protein flours, pastas and rice that are made metabolic doctor and a dietician to care for especially for people with amino acid your child. disorders. Prompt treatment is needed to prevent the build Your child may be given a special formula that up of arginine and ammonia. You should start contains the correct amount of amino acids and treatment as soon as you know your child has nutrients. Your metabolic doctor and dietician the condition. will decide whether your child should use this formula and how much to use. The following are treatments often recommended for babies and children with Your child’s exact food plan will depend on arginase deficiency. many things, such as his or her age, weight and general health. Your dietician will fine-tune Low.-Protein Diet and/or Special Medical your child’s diet over time. Foods and Formula Most children need to eat a diet made up of Medication very low. protein foods and special medical Other medications can help the body get rid of foods. Your dietician will create a food plan excess arginine and ammonia. Your metabolic that contains the right amount of protein, doctor will decide which medications your nutrients and energy to keep your child child should take. healthy. The food plan should be continued throughout your child’s life. Blood Tests Your child will need to have regular blood Low-Protein Diet tests to measure ammonia and amino acid One of the main treatments is a low-protein levels. Your child’s diet and medication may diet. Foods to avoid or strictly limit include: need to be adjusted based on blood test results. 1) Milk, cheese and other dairy products. 2) Meat and poultry. Call Your Doctor at the Start of Any Illness 3) Fish. Illness or infection can sometimes lead to high 4) Eggs. arginine and ammonia levels. In order to 5) Dried beans and legumes. prevent problems, call your doctor right away 6) Nuts and peanut butter. when your child has any of the following: 1) Loss of appetite Eating foods high in protein can cause 2) Low energy or extreme sleepiness ammonia and arginine to build up, resulting in 3) Vomiting the symptoms described above. Many 4) Fever vegetables and fruits have only small amounts 5) Infection or illness of protein and can be eaten in carefully 6) Behavior or personality changes measured amounts. 7) Difficulty walking or balance problems Do not remove all protein from the diet. Your Ask your metabolic doctor if you should carry child still needs a certain amount of protein for a special travel letter with medical instructions normal growth and development. Any changes for your child’s care. in the diet should be made under the guidance of a dietician. ARG 1 Deficiency 2 of 5 May 2008 What happens when arginase deficiency is Can other members of the family have treated? arginase deficiency or be carriers? With prompt and lifelong treatment, children with arginase deficiency may be able to live Having Arginase Deficiency healthy lives with typical growth and learning. If they are healthy and growing normally, older brothers and sisters of a baby with arginase Even with treatment, some children still have deficiency are at low risk of having the effects from high blood levels of arginine and condition. However, finding out whether other ammonia. This can result in permanent children in the family have the condition may learning problems or mental retardation. be important because early treatment can prevent serious health problems. Ask your What causes the arginase enzyme to be metabolic doctor whether your other children absent or not working correctly? should be tested. Genes tell the body to make enzymes. People with arginase deficiency have a pair of genes Arginase Deficiency Carriers that do not work correctly. Because of the Brothers and sisters who do not have arginase changes in this pair of genes, the arginase deficiency still have a chance to be carriers like enzyme does not work properly or is not made their parents. Except in special cases, carrier at all. testing should be done only in people older than 18. Is arginase deficiency inherited? This inherited condition affects both boys and Each of the parents’ brothers and sisters has a girls equally. 50 percent chance to be a carrier. It is important for other family members to be told Everyone has a pair of genes that makes the that they could be carriers. There is a small arginase enzyme. In children with arginase chance they are also at risk to have children deficiency, neither of these genes works with arginase deficiency. correctly. These children inherit one nonworking gene for the condition from each When both parents are carriers, newborn parent. screening results are not sufficient to rule out the condition in a newborn baby. In this case, Parents of children with arginase deficiency special diagnostic testing should be done in rarely have the condition themselves. Instead, addition to newborn screening. each parent has a single nonworking gene for arginase deficiency. They are called carriers. Can other family members be tested? Carriers do not have the condition because the other gene of this pair is working correctly. Diagnostic Testing Brothers and sisters of a child with arginase When both parents are carriers, there is a 25 deficiency can be tested using blood, urine or percent chance in each pregnancy for the child skin samples. to have arginase deficiency. There is a 50 percent chance for the child to be a carrier, just Carrier Testing like the parents. And, there is a 25 percent Carrier testing may be available. Your chance for the child to have two working metabolic doctor or genetic counselor can genes. answer your questions about carrier testing. ARG 1 Deficiency 3 of 5 May 2008 How may people have arginase deficiency? Family Resources About one in every 300,000 babies in the Family to Family Network United States is born with this condition. Center for Rural Health University of North Dakota Does arginase deficiency happen more School of Medicine and Health Sciences frequently in a certain ethnic group? P.O. Box 9037 No, it does not happen more often in any Grand Forks, ND 58202-9037 specific race, ethnic group, geographical area Toll Free: 888.434.7436 or country. 701.777.2359 Fax: 701.777.2353 Does arginase deficiency go by any other E-mail: [email protected] names? www.medicine.nodak.edu/crh Arginase deficiency is sometimes also called hyperargininemia. Pathfinder Services of ND Pathfinder Family Center Where can I find more information? 1600 2nd Ave. SW, Ste. 19 National Urea Cycle Disorders Foundation Minot, ND 58701 www.nucdf.org Toll Free: 800.245.5840 701.837.7500 Children Living with Inherited Metabolic Relay TDD: 701.837.7501 Diseases (CLIMB) E-mail: [email protected] www.climb.org.uk www.pathfinder.minot.com National Coalition for PKU and Allied Family Voices of North Dakota, Inc. Disorders P.O. Box 163 www.pku. allieddisorders.org Edgeley, ND 58433 Toll Free: 888.522.9654 Genetic Alliance 701.493.2634 www.geneticalliance.org Fax: 701.493.2635 www.geocities.com/ndfv Children’s Special Health Services (CSHS) State Capitol Judicial Wing **This fact sheet has general information.
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