ArticleOrphanet journal of rare diseases2026
Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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
2 citing papers in PubMed.
- Recent advances in the bioanalysis of acylcarnitines: Methodologies, challenges, and clinical perspectives.Pharmaceutical science advances · 2026Review
- Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China.Frontiers in endocrinology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMethylmalonic acidemia (MMA) is an autosomal recessive inheritedcongenital metabolic enzyme deficiency disorder that can lead to multi-systemdamage, including the nervous, hematopoietic, hepatic, and renal systems, causingsevere symptoms in the neonatal period and long-term nutritional issues. The detection rate of MMA exhibits significant regional variations. This study aims to find out the incidence rate, biochemical and molecular characteristics, and follow-up status in the Hefei Neonatal Cohort in China.
resultsFrom 2016 to 2023, 34 MMA cases were confirmed biochemically and genetically, comprising 25 combined-type (73.5%) and 9 isolated-type (26.5%) presentations. MMACHC mutations predominated (68.8%), with c.609G>A accounting for 45.5% of variants. Longitudinal surveillance of 26 MMA patients revealed significant morbidity, with 3 cases (11.5%) succumbing to disease complications during follow-up. Comprehensive assessments identified nutritional deficits in 6 patients (23.1%) and neurodevelopmental delays in 4 cases (15.4%), highlighting the multisystemic nature of MMA progression.
conclusionThis study provides a comprehensive characterization of the epidemiological, genetic, and clinical profiles of MMA in the Hefei neonatal cohort. Our results confirm a substantial burden of MMA in this Chinese population. The high morbidity and mortality observed, alongside significant nutritional and neurodevelopmental complications, underscore the multisystemic impact of MMA and highlight the critical need for early diagnosis, sustained follow-up, and genotype-tailored management strategies to improve long-term outcomes.
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.