ReviewOrphanet journal of rare diseases2014
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Review in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 362 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
362 citing papers in PubMed, 2 syntheses or guidelines pooled it, 703 citations in OpenAlex.
- Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.Pediatric research · 2025Pooled it
- Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.Journal of inherited metabolic disease · 2025Pooled it
- First-in-human nuclease-free homologous recombination-dependent gene editing in pediatric patients with methylmalonic acidemia: results of a phase 1/2 study.Gene therapy · 2026Trial
- Trial
- Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.Orphanet journal of rare diseases · 2021Trial
- Article
- Precision metabolic therapy for propionic acidemia.Biochemical pharmacology · 2026Review
- When rare diseases do not appear as a single entity.Advances in laboratory medicine · 2026Article
- Solid Organ Transplantation in Inborn Errors of Metabolism: An Organ-Based, Practice-Oriented Review.Indian journal of pediatrics · 2026Review
- Real world experience of carglumic acid for methylmalonic and propionic acidurias: the second interim analysis of the multicentre observational PROTECT study.Orphanet journal of rare diseases · 2026Observational
- Amino Acid Deficiency Secondary to Continuous Venovenous Hemofiltration in Acute Decompensation of Organic Acidemias: An Anabolic Dead End?Critical care explorations · 2026Observational
- Targeting MMA-induced USP36 methylmalonylation to suppress macrophage polarization and tumor progression in clear-cell renal cell carcinoma.Cell death and differentiation · 2026Article
- Review
- Laboratory Monitoring of Nutritional Deficiencies in Children Following Restrictive Diets: A Narrative Review and Risk-Based Considerations.Children (Basel, Switzerland) · 2026Review
- Reprogramming of valine metabolism mediated by abnormally low ALDH6A1 expression promotes invasive metastasis of gastric cancer.Science advances · 2026Article
- Immune Dysregulation in Branched Chain Organic Acidemias.Journal of inherited metabolic disease · 2026Review
- Associations between Biomarkers of Vitamin BThe Journal of nutrition · 2026Article
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 2026Review
- Methylmalonic acid as a ferroptosis-derived danger signal: activation of the PI3K-NF-κB pathway drives M1 macrophage polarization in renal ischemia-reperfusion injury.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice.Orphanet journal of rare diseases · 2026Review
302 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 19 institutions in 12 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100'000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic acidosis and hyperammonemia or later at any age with a more heterogeneous clinical picture, leading to early death or to severe neurological handicap in many survivors. Mental outcome tends to be worse in PA and late complications include chronic kidney disease almost exclusively in MMA and cardiomyopathy mainly in PA. Except for vitamin B12 responsive forms of MMA the outcome remains poor despite the existence of apparently effective therapy with a low protein diet and carnitine. This may be related to under recognition and delayed diagnosis due to nonspecific clinical presentation and insufficient awareness of health care professionals because of disease rarity.
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What OpenQuestion holds
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.