ArticleEuropean journal of pediatrics1996
Clinical outcome and long-term management of 17 patients with propionic acidaemia.
Article in European journal of pediatrics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.Journal of inherited metabolic disease · 2021Guideline
- Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.Orphanet journal of rare diseases · 2025Article
- Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia.Molecular therapy. Methods & clinical development · 2023Article
- Biomarkers for drug development in propionic and methylmalonic acidemias.Journal of inherited metabolic disease · 2022Review
- Case Report: Novel Mutations in theFrontiers in genetics · 2022Article
- Dietary management and growth outcomes in children with propionic acidemia: A natural history study.JIMD reports · 2021Article
- An expanding spectrum of complications in isolated methylmalonic aciduria.Journal of mother and child · 2020Review
- Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation.International journal of pediatrics · 2020Article
- Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.Journal of Korean medical science · 2019Article
- Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.Journal of inherited metabolic disease · 2018Article
- Dietary practices in propionic acidemia: A European survey.Molecular genetics and metabolism reports · 2017Article
- Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.The Journal of pediatrics · 2017Article
- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?JIMD reports · 2016Article
- Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).American journal of medical genetics. Part A · 2015Article
- Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls.Molecular genetics and metabolism · 2015Article
- Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.Meta gene · 2015Article
- Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.Orphanet journal of rare diseases · 2014Review
- Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.Orphanet journal of rare diseases · 2013Article
- Clinical spectrum of propionic acidaemia.Journal of nutrition and metabolism · 2013Article
- Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.Orphanet journal of rare diseases · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledA retrospective study was performed on the clinical outcome and long-term treatment of 17 patients with propionic acidaemia diagnosed during the last 20 years in our hospital. The study group consisted of 12 patients with early onset type of disease and 5 patients with late onset. Seven (41%) patients died, five with early onset and two with late onset. The deceased early onset patients had a median survival of 0.4 years while the deceased late onset patients died at the age of 2.8 and 4 years respectively. Median age of the living early onset patients was 5.2 (1-9.25) years, the late onset patients were 4, 7 and 23 years old. Patients were all treated with natural protein restriction and in most cases carnitine and metronidazole were added. The early onset patients were almost all treated with daily home tube feeding. The mean natural protein intake of early onset patients (6.3 +/- 1.5 g/day) was significantly lower than the natural protein intake of late onset patients (17.6 +/- 5.3 g/day). Supplemental protein intake was higher in early onset patients. The general neurological outcome of our study group was satisfactory with a better outcome for early onset patients. As to growth, many patients showed a failure to thrive, this was particularly for height. The strong protein restriction during the first years of life probably contributed to this.
conclusionThe prognosis for patients with propionic acidaemia appeared to be satisfactory in terms of survival and outcome characteristics such as neurological and mental development. Despite these results the authors feel that the prognosis and quality of life of these patients might be improved with liver transplantation or possibly somatic gene therapy in the future.
Indexed as
Identifiers
8929729What 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.