ReviewIntractable & rare diseases research2018
Methylmalonic acidemia: Current status and research priorities.
Review in Intractable & rare diseases research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 116 citations in OpenAlex.
- Advanced Ophthalmic Drug Delivery in Homocystinuria Type CblC: A Translational Review of Ophthalmic Pathologies and Therapeutic Opportunities.Pharmaceutics · 2026Review
- Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.Journal of inherited metabolic disease · 2026Review
- Refining MMA Screening in the Dutch Newborn Screening Program: Lessons from Vitamin B12 Deficiency and Genetic Cases.International journal of neonatal screening · 2026Article
- Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.Pediatric research · 2026Article
- Immune Dysregulation in Branched Chain Organic Acidemias.Journal of inherited metabolic disease · 2026Review
- Prolonged In Vitro Exposure to Methylmalonic Acid Induces Inflammation, Glutamate Metabolism Disruption, and Alters Functional Gene Expression in C6 Astroglial Cells.Neurotoxicity research · 2026Article
- Review
- Fibroblast growth factor 21 and growth differentiation factor 15 as biomarkers for oxidative stress in children with methylmalonic acidemia.BMC pediatrics · 2026Article
- Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China.Orphanet journal of rare diseases · 2026Article
- Liver transplantation for propionic acidemia: Survival and metabolic outcomes.Hepatology communications · 2026Article
- Assessment of blood cobalt levels and safety of long-term hydroxocobalamin therapy in patients with cblC defect.Frontiers in nutrition · 2026Article
- Efficacy and organ protective effects of continuous renal replacement therapy in children with organic acidemia complicated by decompensated acidosis: a retrospective study in PICU.Orphanet journal of rare diseases · 2025Article
- Clinical features and treatment of methylmalonic acidemia complicated with Dandy-Walker syndrome: a report of four cases and review of literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- Animal models of methylmalonic acidemia: insights and challenges.Orphanet journal of rare diseases · 2025Review
- NOD-m: a novel clinical score for predicting hearing loss in inherited metabolic disorders.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- Analysis of hydroxocobalamin dosage in patients with CblC deficiency.Orphanet journal of rare diseases · 2025Article
- Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review.Metabolism open · 2025Article
- Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.Pediatric research · 2025Article
- Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.Orphanet journal of rare diseases · 2025Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylmalonic acidemia (MMA) is a lethal, severe heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with poor prognosis. Two main forms of the disease have been identified, isolated methylmalonic acidurias and combined methylmalonic aciduria and homocystinuria, which is respectively caused by different gene mutations. Here, we review the improvement of pathogenesis, diagnosis and treatment in MMA. Importantly, the reported epidemiological data of MMA patients in China and the hot mutation sites in Chinese patients are listed, which will aid in improving healthcare of Chinese patients in the future. c.729_730insTT was the most common mutation in Chinese isolated MMA patients, while c.609G>A and c.658_660delAAG were in Chinese cblC type patients according to unrelated studies. The estimated newborn screening incidence was reported to be 1:26,000, 1:3,920, 1:11,160, 1:6,032 respectively in Beijing and Shanghai, Shandong province, Taian district, and Henan province of China. Alternatively, when patients with suspected inherited metabolic diseases were used as the screened sample, the relatively high incidence 0.3% and 1.32% were respectively obtained in southern China and throughout all the provinces of mainland China and Macao with the exception of five provinces (Hainan, Neimenggu, Tibet, Ningxia, and Hong Kong).
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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.