Diagnosis

Symptoms of Propionic Acidemia

Symptoms will present themselves within days of birth (acute onset) or later in childhood (late onset) depending on the severity of the disorder. Symptoms may include: refusal to eat, poor sucking ability, vomiting, dehydration, lethargy (excessively tired or sluggish), acidosis (excess acid in the blood), and hyperammonemia (excess ammonia in the blood) If not treated, mental impairment, coma and death can follow.

How is Propionic Acidemia diagnosed?

Most states provide comprehensive newborn screening (CNBS) for Propionic Acidemia. Potential late onset cases can be identified using this type of testing. Such cases are verified through additional blood and urine tests. Diagnosis of acute onset cases is typically made in the intensive care unit when newborns go into a metabolic crisis within the first few days of life.

If the baby isn’t screened at birth, late onset cases may present themselves throughout the first few months of life with failure to thrive, vomiting, trouble feeding, and/or low muscle tone. If the symptoms aren’t addressed, late onset cases are usually diagnosed in the ER after a traumatic metabolic crisis. Early detection and treatment of propionic acidemia can potentially improve the prognosis of the affected individual.

Comprehensive Newborn Screening

Comprehensive newborn screening is a simple blood test where a heel prick is performed on the baby to get a few drops of blood. The test should be done 24-48 hours after birth. The test is used to identify many life-threatening genetic disorders including Propionic Acidemia. Each state determines which disorders are included in their newborn screening panel. If your state does not screen for Propionic Acidemia, you can have your child tested through an independent laboratory.

Prenatal Diagnosis

If there is a family history of propionic acidemia, prenatal diagnosis is a way for your doctor to determine, before birth, whether your fetus has a disorder like propionic acidemia.

Genetics

Genetic Testing for Propionic Acidemia

PreventionGenetics offers the following tests: