ReviewMolecular genetics and metabolism2008
Short-chain acyl-coenzyme A dehydrogenase deficiency.
Review in Molecular genetics and metabolism, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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.
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
34 citing papers in PubMed, 101 citations in OpenAlex.
- Biochemistry and regulation of histone lysine L-lactylation.Nature reviews. Molecular cell biology · 2026Review
- DNA methylation of ACADS promotes immunogenic cell death in hepatocellular carcinoma.Cell & bioscience · 2025Article
- Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.Frontiers in pediatrics · 2025Article
- Renal inflammation combined with renal function reserve reduction accelerate kidney aging via pentose phosphate pathway.iScience · 2024Article
- Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers.Journal of biological physics · 2024Article
- Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.European journal of neurology · 2024Article
- Clinical characteristics and related gene mutations of infants with short-chain acyl-CoA dehydrogenase deficiency by neonatal screening in Beijing.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2022Article
- Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.Frontiers in genetics · 2021Article
- Metabolic Alterations Related to Glioma Grading Based on Metabolomics and Lipidomics Analyses.Metabolites · 2020Article
- Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.Communications biology · 2020Article
- The role of exome sequencing in newborn screening for inborn errors of metabolism.Nature medicine · 2020Article
- Article
- Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.Frontiers in genetics · 2019Article
- Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.BMC pediatrics · 2018Article
- Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Journal of inherited metabolic disease · 2017Review
- Compound heterozygous mutations ofKorean journal of pediatrics · 2016Article
- [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Novel high throughput pooled shRNA screening identifies NQO1 as a potential drug target for host directed therapy for tuberculosis.Scientific reports · 2016Article
- Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.Molecular genetics and metabolism reports · 2015Article
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 3 institutions in 1 country.
Funding
Abstract
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. Originally described with a relatively severe phenotype, most patients are now diagnosed through newborn screening by tandem mass spectrometry and remain asymptomatic. Molecular analysis of affected individuals has identified a preponderance of private inactivating point mutations and one common one present in high frequency in individuals of Ashkenazi Jewish ancestry. In addition, two polymorphic variants have been identified that have little affect on enzyme kinetics but impair folding and stability. Individuals homozygous for one of these variants or compound heterozygous for one of each often show an increased level of ethylmalonic acid excretion that appears not to be clinically significant. The combination of asymptomatic affected newborns and the frequent variants can cause much confusion in evaluating and treating individuals with SCADD. The long-term consequences and the need for chronic therapy remain current topics of contention and investigation.
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What 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.