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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Propionic Acidaemia: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Progressive Dilated Cardiomyopathy in a 24-Year-Old Man: A Rare Manifestation of Propionic Acidemia.
Fang Zhang et al., JACC. Case reports (16 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42886140/
- 2.
Patient iPSC-derived astrocytes reveal impaired homeostasis and reactive-like features in propionic acidemia.
González-Garnacho Irene et al., The Journal of pathology (8 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42847266/
- 3.
Adeno-Associated Virus Gene Therapy Translation: Lessons from Early Regulatory Meetings.
Stan Rodica et al., Human gene therapy (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42321968/
- 4.
Propionic acidemia as a framework for understanding the impact of disturbed propionyl-CoA on histone modifications.
Swietach Pawel et al., Biochemical Society transactions (23 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42657490/
- 5.
Disturbances of Mitochondrial Functions and Oxidative Stress Induction in Methylmalonic and Propionic Acidemias: A Critical Role for Metabolite Accumulation.
Amaral Alexandre Umpierrez et al., International journal of molecular sciences (20 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42794808/
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
NCT04732429 · TERMINATED · Phase 2 · HemoShear Therapeutics
Ages 2 and over
https://clinicaltrials.gov/study/NCT04732429
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Propionic Acidaemia
Propionic acidaemia is a rare inherited metabolic condition in which the body cannot fully break down certain proteins and fats, so harmful acids build up in the blood. It often appears in newborns with poor feeding, vomiting, low energy and metabolic crises, and can affect the heart and development. Management involves a protein-restricted diet, carnitine, emergency plans for illness, and specialist metabolic care.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
BACKGROUND: Adult onset propionic acidemia (PA) is exceedingly rare, particularly when manifesting as dilated cardiomyopathy. CASE SUMMARY: A previously healthy 24-year-old man presented with cardiac dilatation and acute progressive heart failure. His condition was refractory to guideline-directed medical therapy, deteriorating to cardiogenic shock within 6 weeks. Plasma acylcarnitine profile revealed elevated propionylcarnitine and an increased propionylcarnitine-to-acetylcarnitine ratio. Urinary organic acid analysis showed elevated methylcitric acid. Whole-exome sequencing identified a homozygous mutation in the PCCA gene. A diagnosis of PA presenting as metabolic cardiomyopathy was established. Cardiac function and hemodynamics improved with targeted metabolic treatment combined with guideline-directed medical therapy. DISCUSSION: Adult onset, metabolic cardiomyopathy because of PA is prone to being overlooked or misdiagnosed as refractory idiopathic dilated cardiomyopathy, potentially leading to premature escalation to advanced heart failure therapies. Early etiologic recognition and targeted metabolic treatment are crucial in the management of such cases. TAKE-HOME MESSAGES: Metabolic and genetic screening is recommended for patients with idiopathic dilated cardiomyopathy, particularly in younger individuals. Early diagnosis and targeted intervention may preclude or delay the progression to left ventricular assist device implantation or heart transplantation in patients with dilated cardiomyopathy secondary to PA.
Common Questions
What is Propionic Acidaemia?
Propionic acidaemia is a rare inherited metabolic condition in which the body cannot fully break down certain proteins and fats, so harmful acids build up in the blood. It often appears in newborns with poor feeding, vomiting, low energy and metabolic crises, and can affect the heart and development. Management involves a protein-restricted diet, carnitine, emergency plans for illness, and specialist metabolic care.
How many clinical trials are available for Propionic Acidaemia?
RareWays currently indexes 12 clinical trials for Propionic Acidaemia, of which 3 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Propionic Acidaemia come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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