Propionic Acidemia

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.  Without treatment, Propionic Acidemia 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 Propionic Acidemia.

About Propionic Acidemia

Propionic Acidemia causes harmful amounts of organic acids and toxins to build up in the body.  Children affected by Propionic Acidemia are not able to break down certain proteins and fats.

If untreated, Propionic Acidemia can cause weak muscle tone, brain defects, and even death.

However, if the condition is detected early and proper treatment is begun, children with Propionic Acidemia can have lessened complications.

Frequency

Propionic Acidemia affects between 1 in 35,000 and 1 in 75,000 babies in the United States.

Condition Type

Propionic Acidemia is an Organic Acid Disorder.

Also Known As

C3, Ketotic Glycinemia, Ketotic Hyperglycinemia, PA, PCC Deficiency, PROP, Propionic Aciduria, Propionyl-CoA Carboxylase Deficiency