Family Minnesota Newborn Fact SheetPositive Result: Screening Program Blood Spot Screen Result Notification

Absent/Reduced Citrulline

What was found on the newborn screen? What health problems can it cause? The newborn screen that was collected at birth found Possible health problems include: that your baby has low levels of an called • Lack of energy citrulline (CIT). • Poor feeding and growth What does this mean? • High levels of in the blood (hyperammonemia) Low levels of CIT can indicate that your child has • Intellectual disabilities a metabolic disorder. If your baby has a metabolic disorder, more testing is needed to find out which • Seizures metabolic disorder it is. The most common metabolic • Coma, sometimes leading to death disorders with low levels of CIT are called proximal Children with these disorders can benefit from prompt cycle disorders. A positive result does not mean and careful treatment. your baby has a proximal disorder, but more testing is needed to know for sure. What treatment options are available? What happens next? Treatment consists of a special diet that avoids Your baby’s doctor or a metabolic specialist will help protein. Certain medications and supplements may be arrange for more testing. Your baby will also be seen by prescribed. Sometimes dialysis (hospital procedure that a metabolic specialist. removes toxins like ammonia from the blood) is needed. In severe cases, a liver transplant will be considered. What are proximal urea cycle disorders? Early treatment can be life-saving. Even with treatment, Proximal urea cycle disorders are a group of disorders some children still have high ammonia at times. This caused by the inability to change ammonia to urea. can result in brain damage causing lifelong learning Ammonia is a waste product that is created when the problems and intellectual disabilities. body breaks down amino acids from protein. Urea is also a waste product from this break down and leaves Children with these disorders should see their regular the body in the urine. Because ammonia doesn’t get doctor and a doctor who specializes in metabolic changed to urea, dangerous amounts of ammonia build disorders. up in the body and causes health problems.

Resources

Genetics Home Reference: Save Babies Through Screening Foundation: Baby’s First Test: http://ghr.nlm.nih.gov www.savebabies.org www.babysfirsttest.org

Newborn Screening Program, 601 Robert St. N., St. Paul, MN 55155 Phone (800) 664-7772, Fax (651) 215-6285 *interpreters available REV 12/2018