Symptoms of Propionic Acidemia

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.

March of Dimes on Newborn Screening

Save Babies through Screening Foundation, Inc.

STAR-G About Expanded Newborn Screening

American College of Medical Genetics ACT Sheet

Comparison of Methods of initial ascertainment in 58 cases of PA

Genetics

Genetic Testing for Propionic Acidemia

Propionic Acidemia Genetics Part 2

PreventionGenetics offers the following tests:

Recent PAF Newsletters

Summer 2024 PAF Newsletter Spring 2024 PAF Newsletter Fall 2023 PAF Newsletter
Dr. Charles P. Venditti, M.D., Ph.D
Research approaches to study propionic acidemia: lessons from patients and mice
Zineb Ammous, MD FACMG, PA 
Propionic Acidemia Overview
Elaine Wakefield, RDN, LP
Fueling the Body
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