ArticleMolecular genetics & genomic medicine2021
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- Fabrication of vitamin BInternational journal of pharmaceutics: X · 2026Article
- Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds.ACS omega · 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
- Clinical and Genetic Characterization of Isolated Methylmalonic Acidemia in Malaysian Children: Identification of Two NovelDiagnostics (Basel, Switzerland) · 2026Article
- Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.International journal of neonatal screening · 2026Article
- Clinical phenotypes and genetic mutation analysis of 45 neonatal-onset methylmalonic acidemia.Frontiers in pediatrics · 2026Article
- Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China.Frontiers in endocrinology · 2026Article
- Review
- Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.Pediatric research · 2025Article
- Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.Human genomics · 2024Article
- Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Orphanet journal of rare diseases · 2024Article
- A novelHeliyon · 2024Article
- Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations.BMC pediatrics · 2024Article
- Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.Metabolic brain disease · 2022Review
- Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA.
methodsThis was a retrospective study of patients diagnosed with mut-type MMA. All patients with mut-type MMA were tested for responsiveness to vitamin B12.
resultsThere were 81, 27, and 158 patients in the completely responsive, partially responsive, and nonresponsive groups, respectively, and the proportions of symptom occurrence were 30/81 (37.0%), 21/27 (77.8%), and 131/158 (82.9%), respectively (p < .001). The median levels of posttreatment propionyl carnitine (C3), C3/acetyl carnitine (C2) ratio in the blood, and methylmalonic acid in the urine were all lower than pretreatment, and the median level of C3/C2 ratio in the completely responsive group was within the normal range. In 266 patients, 144 different mutations in the MMUT gene were identified. Patients with the mutations of c.1663G>A, c.2080C>T, c.1880A>G, c.1208G>A, etc. were completely responsive and with the mutations of c.1741C>T, c.1630_1631GG>TA, c.599T>C, etc. were partially responsive. The proportions of healthy/developmental delay outcomes in the three groups were 63.0%/23.5%, 33.3%/40.7%, and 13.3%/60.1%, respectively (p < .001).
conclusionDifferent mutations in the MMUT gene are associated with the effect of vitamin B12 treatment.
Indexed as
Identifiers
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.