Living with Propionic acidemia
An inherited condition in which the body can't properly break down parts of proteins and fats, usually showing in newborns.
Understanding Propionic acidemia
It is an organic acid disorder, meaning certain acids build up in the blood, urine, and tissues and can cause serious health problems. In most cases signs appear within days of birth. Less commonly, signs appear in childhood and come and go. Fasting, fever, or infection can trigger more serious episodes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor feeding and vomiting
- Low energy (lethargy)
- Low muscle tone (hypotonia)
- Enlarged liver
- Irregular heartbeat
- Delayed development or intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Organic Acidemia Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says gene changes cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: glycinemia, ketotic; hyperglycinemia with ketoacidosis and leukopenia; hyperglycinemia with ketosis and leukopenia; ketotic glycinemia; ketotic hyperglycinemia; ketotic ii glycinemia
Patient organizations
- Organic Acidemia AssociationPropionic acidemia · United States
- Propionic Acidemia FoundationPropionic acidemia · United States
You are more than your diagnosis
Perspectives from people navigating life with Propionic acidemia.
Explore research for Propionic acidemia
Explore actively recruiting Propionic acidemia studies with HealthSpark.
Find actively recruiting studies for Propionic acidemia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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