ReviewPediatric nephrology (Berlin, Germany)2013
Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.
Review in Pediatric nephrology (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduria.Scientific reports · 2025Article
- Review
- Role of carglumic acid in the long-term management of propionic and methylmalonic acidurias.Orphanet journal of rare diseases · 2024Review
- Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review.BMC nephrology · 2024Review
- Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.Human genomics · 2024Article
- Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review.Journal of clinical medicine · 2024Article
- Case report: A case of new mutation inFrontiers in genetics · 2023Article
- Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.iScience · 2022Review
- Methylmalonic acid levels in serum, exosomes, and urine and its association with cblC type methylmalonic acidemia-induced cognitive impairment.Frontiers in neurology · 2022Article
- Long-term renal outcome in methylmalonic acidemia in adolescents and adults.Orphanet journal of rare diseases · 2021Article
- Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease.Frontiers in medicine · 2021Article
- Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.BMC medical genetics · 2020Article
- Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related toMolecular genetics and metabolism reports · 2020Article
- The Value of Liver Transplantation for Methylmalonic Acidemia.Frontiers in pediatrics · 2019Review
- Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy.Kidney international reports · 2018Article
- Organic acidurias in adults: late complications and management.Journal of inherited metabolic disease · 2018Review
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Journal of inherited metabolic disease · 2017Review
- A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.Molecular syndromology · 2016Article
- Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.Orphanet journal of rare diseases · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylmalonic acidurias are a heterogeneous group of inborn errors of branched-chain amino acid metabolism. Depending on the underlying etiology, acute or chronic renal disease constitutes major (long-term) complications. In recent decades, overall survival has improved due to optimized treatment strategies based on the use of standardized emergency protocols and dialysis techniques. The majority of these patients, especially those having mut°, cblB, and cblA deficiency, are at increased risk of developing chronic kidney disease secondary to tubulointerstitial nephritis to require hemo- or peritoneal dialysis. Kidney and/or liver transplantation, as organ replacement, or even gene therapy on a limited scale, are controversially discussed treatment options in methylmalonic acidurias. The pathophysiological basis of renal disease has not been clarified in detail until now, but a severe mitochondrial dysfunction and an impairment of tubular dicarboxylic acid transport due to accumulated toxic metabolic compounds has been recently proposed. Another severe renal complication of methylmalonic acidurias is the occurrence of cblC-associated infantile atypical hemolytic syndrome, which can result in acute kidney injury. Close collaboration between (pediatric) nephrologists and metabolic specialists is required for the long-term management of these patients.
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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.