Evidence map›Paper›PMID 32840329›Full record

ReviewThe American journal of managed care2020

Long-chain fatty acid oxidation disorders and current management strategies.

Jerry Vockley

Open access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in The American journal of managed care, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed, 1 pooled it
3.9field-weighted citation impact, top 6% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

42 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.

  1. Guideline
  2. Trial
  3. Article
  4. Review
  5. [A case of neonatal fatty acid oxidation disorder].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026
    Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Molecular and cellular mechanisms of pentadecanoic acid.World journal of biological chemistry · 2025
    Review
  12. Review
  13. Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Jerry VockleyChief of the Division of Medical Genetics and Director of The Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh; and Cleveland Family Endowed Chair in Pediatric Research and Professor of Human Genetics, University of Pittsburgh, both in Pittsburgh, PA. Email: gerard.vockley@chp.edu.
Children's Hospital of Pittsburgh · US

Funding

Inborn Errors of Long Chain Fat MetabolismR01DK078775 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI VOCKLEY, GERARD · 2008 to 2019
$4.5M
NIDDK NIH HHS R01 DK078775
6 · The paper itself

Abstract

Long-chain fatty acid oxidation disorders (LC-FAODs) are rare, life-threatening, autosomal recessive genetic disorders characterized by acute crises of energy production and chronic energy deficiency. Patients may present with rhabdomyolysis induced by exercise; fasting or illness; hepatic dysfunction, including severe hypoglycemia and hyperammonemia; and cardiomyopathy. These clinical manifestations can lead to frequent hospitalizations and premature death. LC-FAODs are caused by mutations in nuclear genes encoding mitochondrial enzymes involved in the conversion of dietary long-chain fatty acids (LCFAs) into energy during times of fasting and physiologic stress. Despite newborn screening, current management options leave many patients continuing to experience major clinical events, and mortality rates remain elevated. The current standard therapy for LC-FAODs is avoidance of fasting and supplementation of medium-chain triglyceride oil, an even, medium-chain fatty acid that does not require the typical steps of LC-FAOD for metabolism. Despite this therapy, patients with LC-FAODs continue to experience recurring hospitalizations, and high morbidity and mortality rates. In recent years, the use of medium, odd-chain fatty acids, such as triheptanoin, have been studied as a treatment of LC-FAODs due to its anaplerotic properties. Due to favorable safety and efficacy data from clinical trials, this novel agent has the potential to transform the treatment of LC-FAODs and improve patient outcomes in this patient population. This article provides an overview of the epidemiology, pathophysiology, clinical manifestations, and current management approaches for the diagnosis and management of LC-FAODs. It also provides the most recent clinical safety and efficacy data for triheptanoin and other therapies under investigation.

Indexed as

Lipid Metabolism, Inborn ErrorsCardiomyopathiesExerciseFatty AcidsHumansOxidation-ReductionFatty Acids

Identifiers

PMID32840329
PMCPMC9850137
OpenAlexW3080376549

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.