ReviewEndocrinology, diabetes & metabolism2023
Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Review in Endocrinology, diabetes & metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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
36 citing papers in PubMed.
- The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.Annals of medicine · 2026Review
- Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review.Medical science monitor : international medical journal of experimental and clinical research · 2026Review
- Pediatric endocrine disorders: a review of intracranial findings and appropriate imaging.Pediatric radiology · 2026Review
- Metabolic insights into the pathophysiology of tuberculous meningitis in FFPE postmortem human brain tissue.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Review
- Early-onset and rapid progression of arrhythmogenic cardiomyopathy in a pediatric patient with medium chain acyl-CoA dehydrogenase deficiency.HeartRhythm case reports · 2026Article
- The significance of the ketolytic gene OXCT1 in metabolism, intracellular signaling and disease development.Cellular and molecular life sciences : CMLS · 2026Review
- Urinary Biomarkers in Parkinson's Disease: A Structured Integrative Review of Pathophysiological Pathways.Medical sciences (Basel, Switzerland) · 2026Review
- 2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.Orphanet journal of rare diseases · 2026Article
- In defense of the Holman index: Defining fatty acid deficiency.Nutrition (Burbank, Los Angeles County, Calif.) · 2026Review
- The Impact of Nutritional Management on Fat-Soluble Nutrient Status in Patients with Fatty Acid Oxidation Disorders: A Cross-Sectional Study.Metabolites · 2026Article
- Exploring Deleterious Nonsynonymous SNPs in theGenetics research · 2026Article
- High-Risk Pregnancy Associated With Maternal Hypoparathyroidism and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.Case reports in endocrinology · 2026Article
- Association of medium-chain acyl-CoA dehydrogenase with the risk of diabetic kidney disease: a mendelian randomized study.Hormones (Athens, Greece) · 2025Article
- Genetic Regulation and Breeding Application of Medium-Chain Fatty Acids Metabolism in Rice.Biology · 2025Review
- Effects of dietary management for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) on eating behaviour in childhood, adolescence and young adulthood.BMC nutrition · 2025Article
- Methodologies to Identify Metabolic Pathway Differences Between Emaciated and Moderately Conditioned Horses: A Review of Multiple Gene Expression Techniques.Animals : an open access journal from MDPI · 2025Review
- N6-methyladenosine improves porcine longissimus dorsi muscle quality by regulating myofiber differentiation.BMC genomics · 2025Article
- Prevalence and Mutation Analysis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.International journal of neonatal screening · 2025Article
- Lipidomic Profiling of Red Blood Cells in the Mitochondrial Fatty Acid β-oxidation Disorder MCADD Reveals Phospholipid and Sphingolipid Dysregulation.Journal of proteome research · 2025Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMedium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is the most common inherited metabolic disorder of β-oxidation. Patients with MCADD present with hypoketotic hypoglycemia, which may quickly progress to lethargy, coma, and death. Prognosis for MCADD patients is highly promising once a diagnosis has been established, though management strategies may vary depending on the severity of illness and the presence of comorbidities. METHODS AND
resultsGiven the rapid developments in the world of gene therapy and implementation of newborn screening for inherited metabolic disorders, the provision of concise and contemporary knowledge of MCADD is essential for clinicians to effectively manage patients. Thus, this review aims to consolidate current information for physicians on the pathogenesis, diagnostic tools, and treatment options for MCADD patients.
conclusionMCADD is a commonly inherited metabolic disease with serious implications for health outcomes, particularly in children, that may be successfully managed with proper intervention.
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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.