ArticleScientific reports2020
Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Article
- Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China.Orphanet journal of rare diseases · 2026Article
- Methylmalonic acidemia with homocystinuria in acute myeloid leukemia: a case report.BMC pediatrics · 2025Article
- Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.BMC pediatrics · 2024Article
- Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations.European journal of medical research · 2024Article
- Pulmonary fungal infection in a neonate with methylmalonic acidemia: A case report.World journal of clinical cases · 2023Article
- Article
- The Human Glyoxalase Gene Family in Health and Disease.Chemical research in toxicology · 2022Review
- Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.Metabolic brain disease · 2022Review
- Recent research on inherited metabolic diseases in children.Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Review
- Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.PloS one · 2022Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylmalonic acidemia (MMA)-affected patients may have developmental, hematological, neurological, metabolic, ophthalmological, and dermatological clinically abnormal findings. This study aimed to identify mutations in 13 Chinese MMA cases. We provided genetic counseling, treatment, and prenatal diagnosis for the families with MMA. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was performed and the results were confirmed by gas chromatography and mass spectrometry (GC/MS). Variant screening in probands was performed by targeted next-generation sequencing. Identified variants were confirmed by Sanger sequencing. Of these 13 MMA cases, seven were isolated MMA, and among them, six were caused by variants in MMUT and one was caused by a variant in MCEE. The other six cases were MMA with homocystinuria, which was caused by variants in MMACHC. We found six novel variants in three MMA-causing genes as follows: c.2008G>A, c.301_302insTA, c.984delC, and c.319A>T of MMUT; c.445T>C of MMACHC; and c.296T>C of MCEE. We provided prenatal diagnosis for two families with MMA at their next pregnancy, and one family had a healthy newborn. In conclusion, our findings expand the spectrum of genotypes in MMA. Effective genetic counseling is required to allow awareness of the patients' families that MMA disease is treatable and a good prognosis can be obtained.
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