ArticleOrphanet journal of rare diseases2019
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 50 citations in OpenAlex.
- Precision metabolic therapy for propionic acidemia.Biochemical pharmacology · 2026Review
- Transplantation as disease modifying therapy in the era of gene therapy medicinal products - health policy considerations.Orphanet journal of rare diseases · 2026Review
- Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort Study.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
- The Role of Methylmalonic Acid in the Risk of Sarcopenia and All-Cause Mortality Among Individuals With Sarcopenia: Evidence From NHANES.Food science & nutrition · 2025Article
- Author's Reply to Perera et al.: A Commentary on "An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom".Clinical drug investigation · 2025Article
- Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.Orphanet journal of rare diseases · 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
- Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.Orphanet journal of rare diseases · 2024Review
- Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN.Kidney international reports · 2024Article
- Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.BMC pediatrics · 2024Article
- An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom.Clinical drug investigation · 2024Article
- Methylmalonic acid in aging and disease.Trends in endocrinology and metabolism: TEM · 2024Review
- Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.Orphanet journal of rare diseases · 2024Review
- Pathophysiological mechanisms of complications associated with propionic acidemia.Pharmacology & therapeutics · 2023Review
- Systemic gene therapy for methylmalonic acidemia using the novel adeno-associated viral vector 44.9.Molecular therapy. Methods & clinical development · 2022Article
- Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.Metabolic brain disease · 2022Review
- Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia.Orphanet journal of rare diseases · 2022Article
- Article
- Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.JIMD reports · 2021Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMost patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place in Taiwan from January, 2000 and data was collected until December, 2016.
resultsDuring the study period, 3,155,263 newborns were screened. The overall incidence of MMA mutase type cases was 1/121,356 (n = 26), 1 cobalamin B was detected and that for PA cases (n = 4) was 1/788,816. The time of referral is 8.8 days for MMA patients, and 7.5 days for PA patients. The MMA mutase type patients have higher AST, ALT, and NH
conclusionMMA/PA patients with LT do survive and have reduced admission time, reduced tube feeding and the caregiver is less anxious.
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