Arkansas Department of Health Newborn Screening Result: Elevated C3 Infant may have an Organic acid disorder Information Sheet for Parents You have just heard that your infant may What are the signs and symptoms of organic have Organic acid disorder. Please acid disorders? understand that the newborn screening is just Symptoms often appear in the first few weeks of that – a screening test. Not all cases that are life. Symptoms can include a lack of appetite, screened positive will be confirmed to have vomiting, seizures, lack of energy, muscle the diagnosis. The below information is irritability, and low body temperature. Illness meant to keep you informed while further can be triggered by infections or by fasting. If testing is done to evaluate the newborn left untreated, organic acid disorders may cause screening result. serious medical problems including brain damage, coma and even death. What is an Organic Acid disorder? Children with organic acid disorders do not have How are organic acid disorders diagnosed? enough of a specific enzyme that helps break After receiving a positive newborn screen, the down certain proteins. This leads to an most important thing parents can do is be sure abnormal buildup of particular acids called that their baby goes in for a new specimen to be organic acids. Abnormal levels of organic acids collected and tested as soon as possible. If the in the blood (organic acidemia), urine (organic baby does have an organic acid disorder, there aciduria), and tissues can be toxic and cause are treatments available. A pediatric metabolic serious health problems. Most cases of organic doctor and geneticist will help confirm a acid disorders show symptoms within the first diagnosis. two weeks after birth. How are organic acid disorders treated? Why is newborn screening done for organic acid The baby’s primary doctor will work with a disorders? metabolic doctor and a dietician to treat the Newborn screening for organic acid disorders condition. Organic acid disorders are treated offers early detection so that treatment can begin with low-protein diet, special infant formula and earlier. Early detection can help prevent many medical foods. Sometimes, other protein of the complications that may arise should the supplements may need to be added to the baby’s disorder go untreated during infancy. diet. Any changes in diet should be made under the guidance of a dietician. Individuals must Does a positive newborn screening result mean follow the special diet for the rest of their lives. that a baby has an organic acid disorder? Probably, though some babies who are screened Where can I get additional information? will be identified as “positive” on screening, but later found to not have the disorder. Further http://www.arkansas.gov/ testing needs to be done in order to determine if newborn_screening/index.html the baby has the disorder, or to rule it out as a “false positive”.
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