propionic acidemia
Findings
No curated finding names propionic acidemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0011628), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased level of hippuric acid in urineHPOHP:0410066
- 20 of 20 reported patients
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- HyperammonemiaHPOHP:0001987
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
- Organic aciduriaHPOHP:0001992
- Very frequent (80% to 99% of cases)
- Propionyl-CoA carboxylase deficiencyHPOHP:0003353
- Very frequent (80% to 99% of cases)
- Abnormality of immune system physiologyHPOHP:0010978
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- CardiomyopathyHPOHP:0001638
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PCCAHGNC:8653
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- PCCBHGNC:8654
- Definitive · ClinGen · Autosomal recessive · 2018
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- A kind of
- Narrower terms (2)
Other names
4 names
Resolves to: propionic acidemia
- Also called
- GLYCINEMIA, ketoticketotic hyperglycinemiapropionic aciduriapropionyl-CoA carboxylase deficiency