Propionic acidemia is a rare, inherited condition in which the body cannot properly break down certain proteins and fats. Harmful acids can then build up in the blood. It is included on newborn screening because early management can prevent serious metabolic crises.
What causes propionic acidemia
The condition is caused by variants in the PCCA or PCCB genes, which together build an enzyme called propionyl-CoA carboxylase. When the enzyme does not work, byproducts of protein and fat breakdown accumulate. It is an organic acid disorder, inherited in an autosomal recessive pattern.
How newborn screening detects it
Newborn screening uses tandem mass spectrometry on the heel-prick blood spot to detect an elevated marker (C3 acylcarnitine). An abnormal result prompts confirmatory blood and urine testing and gene analysis.
How propionic acidemia is managed
Management typically includes a protein-restricted diet with a special medical formula, carnitine supplementation, and a clear sick-day plan to prevent crises during illness. Some children need additional specialist care over time. Treatment is guided by a metabolic team, and early, consistent management makes a meaningful difference.
How genetic screening fits in
State newborn screening does an excellent job of catching propionic acidemia. Genetic screening looks at the same picture from the DNA level and, in a single test, can also assess the genes tied to more than 1,000 other clinically actionable childhood conditions, many of which are not on any state panel. Fore Genomics offers an at-home cheek-swab screen, sequenced in CLIA-certified and CAP-accredited labs, with results supported by board-certified genetic counselors. See what we screen for or start screening.
Frequently asked questions
Is propionic acidemia on newborn screening panels?
Yes. Propionic acidemia is a core condition on the federal Recommended Uniform Screening Panel and is screened for across U.S. states.
What is a sick-day plan?
It is a set of instructions from your metabolic team for what to do when your child is ill or not eating well, since those times carry the highest risk of a metabolic crisis.
Is it inherited?
Yes. Propionic acidemia is autosomal recessive, so a child inherits variants from both parents.
Related guides
- Newborn Screening Guide (all conditions and states)
- Isovaleric Acidemia
- Maple Syrup Urine Disease (MSUD)
Medically reviewed by Fore's Clinical Team. This article is for general educational purposes and is not medical advice. Sources: HRSA Newborn Screening; National Organization for Rare Disorders (NORD).