ArticleHNO2008
[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].
Article in HNO, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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.
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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
5 citing papers in PubMed, 5 citations in OpenAlex.
- SARS-CoV-2 infection in a patient with propionic acidemia.Orphanet journal of rare diseases · 2020Review
- Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.Molecular genetics and metabolism reports · 2019Article
- Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2018Article
- Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia.Orphanet journal of rare diseases · 2017Article
- Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.Orphanet journal of rare diseases · 2013Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
current knowledgePropionic acidemia is caused by a gene defect leading to malfunction of the enzyme propionyl-CoA carboxylase (PCC) and in turn to a pathologic accumulation of propionic acid. Many mutations have been found at the molecular genetic level over the past 20 years, and their implications for the limitation of enzyme activity of PCC in propionic acidemia are discussed. SCIENTIFIC QUESTION AND AIMS OF THE STUDY: As an elevated incidence of deafness has been observed in patients with propionic acidemia, the question arises of whether mutations primarily responsible for this disease could also be the underlying cause for a genetic form of deafness. METHODS AND
resultsAs well as a standard pure tone audiogram, a pedigree was elaborated and DNA isolated for each family concerned. In one family several subjects displayed mutations of both the PCCA and the PCCB -subunits; these included only one girl whose phenotype was affected, however.
conclusionsMutation of the PCCB subunit p.R113X has not previously been mentioned in the literature. According to our present knowledge no connection can be assumed between either of the two mutations and the severe sensorineural hearing loss.
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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.