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. It is important for the plasma ammonia to be drawn and handled properly. For more information, see CHECKAMMONIA.com
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
- National Newborn Screening & Genetics Resource Center
- Newborn Screening Message Board
- 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
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.
- Prenatal Diagnosis of propionic acidemia – JAMA
- Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.
- Prenatal diagnosis of propionic acidemia.
- Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidemia
- Prenatal Diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS.
Genetic Testing for Propionic Acidemia
Blueprint Genetics offers the following:
PreventionGenetics offers the following tests:
- PROPIONIC ACIDEMIA VIA THE PCCA GENE
- PROPIONIC ACIDEMIA VIA THE PCCB GENE
- PROPIONIC ACIDEMIA SEQUENCING PANEL