ArticleJournal of inherited metabolic disease2009
Unusual presentation of propionic acidaemia as isolated cardiomyopathy.
Article in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Ventricular Fibrillation and Cardiomyopathy in Propionic Acidemia: A Rare Metabolic Red Flag in Young Adults.JACC. Case reports · 2025Article
- Propionic Acidemia-Induced Proarrhythmic Electrophysiological Alterations in Human iPSC-Derived Cardiomyocytes.Journal of inherited metabolic disease · 2025Article
- The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemia.Basic research in cardiology · 2024Article
- Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series.Molecular genetics and metabolism reports · 2024Article
- Pathophysiological mechanisms of complications associated with propionic acidemia.Pharmacology & therapeutics · 2023Review
- Review
- Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.International journal of molecular sciences · 2023Article
- Successful heart transplantation in a patient with adolescent-onset dilated cardiomyopathy secondary to propionic acidaemia: a case report.European heart journal. Case reports · 2022Article
- Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.BMC medical genomics · 2022Review
- Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia.International journal of molecular sciences · 2021Article
- Cardiac Complications of Propionic and Other Inherited Organic Acidemias.Frontiers in cardiovascular medicine · 2020Review
- Propionate-induced changes in cardiac metabolism, notably CoA trapping, are not altered by l-carnitine.American journal of physiology. Endocrinology and metabolism · 2018Article
- Long-term outcomes in Amish patients diagnosed with propionic acidemia.Molecular genetics and metabolism reports · 2018Article
- Propionyl-CoA carboxylase - A review.Molecular genetics and metabolism · 2017Review
- Propionic acidemia as a cause of adult-onset dilated cardiomyopathy.European journal of human genetics : EJHG · 2017Article
- "Classical organic acidurias": diagnosis and pathogenesis.Clinical and experimental medicine · 2017Review
- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.JIMD reports · 2017Article
- Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community.Molecular genetics and metabolism reports · 2016Article
- Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.European journal of pediatrics · 2014Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
Propionic acidaemia (PA) is an autosomal recessive disease that results from deficiency of propionyl-CoA carboxylase (PCC). In the majority of reported cases, the phenotype includes metabolic acidosis and/or neurological deficits. We report on a 14-year-old Asian-American male with PA who presented with isolated cardiomyopathy without any documented episodes of metabolic acidosis or evidence of any neurocognitive deficits. On routine metabolic screening, the patient was found to have urine organic acids suggestive of PA. Biochemical and genetic characterization confirmed a PCC deficiency with two novel mutations in PCCB: IVS7 + 2 T > G (c.763 + 2 T > G) and p.R410Q (c.1229 G > A). Residual enzyme activity likely explains our patient's mild phenotype. Splicing mutations tend to result in a milder phenotype as these mutations may still produce small amounts of normal enzyme. In addition, the similar p.R410W mutation has been shown to have partial residual activity. Moreover, this case illustrates that a thorough metabolic evaluation should be performed in both paediatric and adult patients with cardiomyopathy. Such an evaluation has important implications for clinical management and genetic counselling.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.