ReviewJournal of inherited metabolic disease2023
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Review in Journal of inherited metabolic disease, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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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
29 citing papers in PubMed, 32 citations in OpenAlex.
- 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
- Protective in vitro effects of antioxidants against DNA damage induced by metabolites accumulated in propionic and methylmalonic acidemias.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Current status in paediatric liver transplantation for inherited metabolic diseases.Journal of pediatric gastroenterology and nutrition · 2026Review
- Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report.BMC neurology · 2026Article
- Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease.JIMD reports · 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
- Correction of a recurrent pathogenic variant in methylmalonic acidemia using adenine base editing.bioRxiv : the preprint server for biology · 2026Article
- Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?Journal of inherited metabolic disease · 2026Article
- Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China.Frontiers in endocrinology · 2026Article
- Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.Journal of innate immunity · 2026Review
- Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood.Molecular genetics and metabolism reports · 2025Article
- Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.Molecular genetics and metabolism reports · 2025Article
- Animal models of methylmalonic acidemia: insights and challenges.Orphanet journal of rare diseases · 2025Review
- Serum methylmalonic acid levels predict multisite bone mineral density decline in patients with suspected mitochondrial dysfunction.Journal of orthopaedic surgery and research · 2025Article
- The Arg108Cys Variant of Methylmalonyl-CoA Mutase: Clinical Implications for the Mexican Population Based on Molecular Dynamics and Docking.International journal of molecular sciences · 2025Article
- Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Orphanet journal of rare diseases · 2025Article
- Retrospective analysis of diagnosis and treatment in 9 cases of childhood-onset methylmalonic acidemia in China.Frontiers in neurology · 2025Article
- Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.Kidney international reports · 2024Article
- Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.Molecular genetics and metabolism reports · 2024Article
- Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency.Scientific reports · 2024Article
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 2 countries.
Funding
Abstract
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor, 5'-deoxy-adenosylcobalamin. It is characterized by life-threatening episodes of ketoacidosis, chronic kidney disease, and other multiorgan complications. Liver transplantation can improve patient stability and survival and thus provides clinical and biochemical benchmarks for the development of hepatocyte-targeted genomic therapies. Data are presented from a US natural history protocol that evaluated subjects with different types of MMA including mut-type (N = 91), cblB-type (15), and cblA-type MMA (17), as well as from an Italian cohort of mut-type (N = 19) and cblB-type MMA (N = 2) subjects, including data before and after organ transplantation in both cohorts. Canonical metabolic markers, such as serum methylmalonic acid and propionylcarnitine, are variable and affected by dietary intake and renal function. We have therefore explored the use of the 1-
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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.