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Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby will need to have another test. Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Prolinemia can result in harmful effects soon after birth.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with Prolinemia.
About Prolinemia
Prolinemia causes high amounts of the amino acid, proline, to build up in the body. There are two types of Prolinemia, type I and type II. Both types vary from no symptoms to mild intellectual disability and seizures. There is currently no treatment for Prolinemia.
Frequency
Prolinemia is very rare. The exact frequency is unknown.
Condition Type
Prolinemia is an Amino Acid Disorder.
Also Known As
Hyperprolinemia, PRO, Proline, Proline Oxidase Deficiency, Prolinemia Type I, Prolinemia Type II, Pyrroline Carboxylate Dehydrogenase Deficiency, Pyrroline-5-Carboxylate Dehydrogenase Deficiency