Observational studyJournal of inherited metabolic disease2022
Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study.
Observational study in Journal of inherited metabolic disease, 2022. 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.
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Who cites it
5 citing papers in PubMed, 3 citations in OpenAlex.
- 2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.Orphanet journal of rare diseases · 2026Article
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency Disorder as a Cause of Acute Liver Failure in a 23-Month-Old Baby.Journal of medical cases · 2025Article
- Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots.International journal of molecular sciences · 2023Article
- Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.Endocrinology, diabetes & metabolism · 2023Review
- Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study.Journal of inherited metabolic disease · 2022Observational
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Our aim was to study the effect of secondary carnitine deficiency (SCD) and carnitine supplementation on important outcome measures for persons with medium-chain Acyl-CoA dehydrogenase deficiency (MCADD). We performed a large retrospective observational study using all recorded visits of persons with MCADD in the University Medical Center Groningen, the Netherlands, between October 1994 and October 2019. Frequency and duration of acute unscheduled preventive hospital visits, exercise tolerance, fatigue, and muscle pain were considered important clinical outcomes and were studied in relation to (acyl)carnitine profile and carnitine supplementation status. The study encompassed 1228 visits of 93 persons with MCADD. >60% had SCD during follow-up. This included only persons with severe MCADD. Carnitine supplementation and SCD were unrelated to the frequency and duration of the acute unscheduled preventive hospital visits (P > 0.05). The relative risk for fatigue, muscle ache, or exercise intolerance was equal between persons with and without SCD (RR 1.6, 95% CI 0.48-5.10, P = 0.4662). No episodes of metabolic crisis were recorded in non-carnitine-supplemented persons with MCADD and SCD. In some persons with MCADD, SCD resolved without carnitine supplementation. There is absence of real-world evidence in favor of routine carnitine analysis and carnitine supplementation in the follow-up of persons with MCADD.
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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.