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