ArticleOrphanet journal of rare diseases2020
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds.ACS omega · 2026Article
- Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia.Molecular and cellular pediatrics · 2026Article
- [Diagnostic accuracy of tandem mass spectrometry combined with artificial intelligence for neonatal methylmalonic acidemia and associated factors].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Fully Automated Serum LC-MS/MS Platform and Pediatric Reference Intervals for Organic Acids, Amino Acids, and Acylcarnitines in Children (Ages 0-6 Years): Toward Quantitative Diagnosis of Inborn Errors of Metabolism.Diagnostics (Basel, Switzerland) · 2026Article
- Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China.Frontiers in endocrinology · 2026Article
- Serum metabolic profiling in rheumatic heart disease and degenerative aortic stenosis.Scientific reports · 2025Article
- Clinical burden of propionic acidemia in the United States: a claims-based study by age stratum.Orphanet journal of rare diseases · 2025Article
- A predictive model for neoadjuvant therapy response in breast cancer.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Metabolic Phenotyping of Healthy and Diseased Human RPE Cells.Investigative ophthalmology & visual science · 2024Article
- Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles.Metabolites · 2024Article
- Prevalence of propionic acidemia in China.Orphanet journal of rare diseases · 2023Review
- Small-sample learning reveals propionylation in determining global protein homeostasis.Nature communications · 2023Article
- New insights into the pathophysiology of methylmalonic acidemia.Journal of inherited metabolic disease · 2023Review
- Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.Amino acids · 2022Observational
- Biomarkers for drug development in propionic and methylmalonic acidemias.Journal of inherited metabolic disease · 2022Review
- The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism.Journal of inherited metabolic disease · 2022Article
- Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a CommonInternational journal of neonatal screening · 2021Review
- A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.Molecular genetics and metabolism · 2021Article
- Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia.Molecular genetics and metabolism reports · 2020Article
- SARS-CoV-2 infection in a patient with propionic acidemia.Orphanet journal of rare diseases · 2020Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPathophysiology of life-threatening acute metabolic decompensations (AMD) in propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is insufficiently understood. Here, we study the metabolomes of PA and MMA patients over time, to improve insight in which biochemical processes are at play during AMD.
methodsLongitudinal data from clinical chemistry analyses and metabolic assays over the life-course of 11 PA and 13 MMA patients were studied retrospectively. Direct-infusion high-resolution mass spectrometry was performed on 234 and 154 remnant dried blood spot and plasma samples of PA and MMA patients, respectively. In addition, a systematic literature search was performed on reported biomarkers. All results were integrated in an assessment of biochemical processes at play during AMD.
resultsWe confirmed many of the metabolite alterations reported in literature, including increases of plasma valine and isoleucine during AMD in PA patients. We revealed that plasma leucine and phenylalanine, and urinary pyruvic acid were increased during AMD in PA patients. 3-hydroxyisovaleric acid correlated positively with plasma ammonia. We found that known diagnostic biomarkers were not significantly further increased, while intermediates of the branched-chain amino acid (BCAA) degradation pathway were significantly increased during AMD.
conclusionsWe revealed that during AMD in PA and MMA, BCAA and BCAA intermediates accumulate, while known diagnostic biomarkers remain essentially unaltered. This implies that these acidic BCAA intermediates are responsible for metabolic acidosis. Based on this, we suggest to measure plasma 3-hydroxyisovaleric acid and urinary ketones or 3-hydroxybutyric acid for the biochemical follow-up of a patient's metabolic stability.
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