ArticleMolecular genetics and metabolism reports2018
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.
Article in Molecular genetics and metabolism reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.Orphanet journal of rare diseases · 2019Pooled it
- Systematic literature review and meta-analysis on the epidemiology of propionic acidemia.Orphanet journal of rare diseases · 2019Pooled it
- Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study.Orphanet journal of rare diseases · 2026Article
- Relationship of Filipino MSUD Children's Nutrient Intake, Nutritional Status, and Leucine Level, and Caregiver's Nutrition Knowledge, Attitudes, and Practices.Acta medica Philippina · 2026Article
- Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.Orphanet journal of rare diseases · 2025Review
- Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.Orphanet journal of rare diseases · 2025Article
- Article
- Clinical burden of propionic acidemia in the United States: a claims-based study by age stratum.Orphanet journal of rare diseases · 2025Article
- Maple syrup urine disease diagnosed in a resource-limited setting in an infant in Nepal: a case report.BMC pediatrics · 2024Article
- Liquid chromatography-mass spectrometric method for the simultaneous analysis of branched-chain amino acids and their ketoacids from dried blood spot as secondary analytes for the detection of maple syrup urine disease.Journal of mass spectrometry and advances in the clinical lab · 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
- Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.Molecular psychiatry · 2024Article
- Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience.Human gene therapy · 2023Article
- Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.Metabolic brain disease · 2022Review
- Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.Orphanet journal of rare diseases · 2022Observational
- Case report: A unusual case of delayed propionic acidemia complicated with subdural hematoma.Frontiers in neurology · 2022Article
- 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
- A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.Molecular genetics and metabolism · 2021Article
- Anesthetic Management of a Child With Propionic Acidemia Complicated by Bacteremia and Severe Acute Respiratory Syndrome Coronavirus 2.Journal of medical cases · 2021Article
- Spinal cerebrotendinous xanthomatosis: A case report and literature review.Molecular genetics and metabolism reports · 2021Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened. Here newborn screening results from three world regions, state screening laboratories in the United States, a region in Germany and Kuwait provides new incidence numbers. Maple syrup urine disease incidence in the United States was calculated to be 1: 220219, in South-West Germany 1: 119573 (Germany nationwide 1:177978), and in Kuwait 1: 59426. Incidence of propionic acidemia alone is calculated to be 1: 242741 in the United States, 1: 284450 in South-West Germany (Germany nationwide 1:202617) and 1:59426 in Kuwait. Incidence of isolated methylmalonic aciduria alone is 1:69354 in the United States, 1:568901 in South-West Germany (Germany nationwide 1:159199) and 1: 19809 in Kuwait. In the United States several newborn screening laboratories combine their results for propionic acidemia and methylmalonic aciduria, and also include combined remethylation disorders in the respective category, resulting in an incidence of 1:50709. Combined evaluation of methylmalonic aciduria, propionic aciduria and combined remethylation disorders results in a similar incidence for Germany of 1:67539. This evaluation of newborn screening incidences reflects some population differences for three intoxication-type metabolic disorders. However, different sample sizes of the populations screened over different time periods, and differences in case definitions for methylmalonic acidurias have to be considered when interpreting these data.
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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.