Evidence map›Paper›PMID 38490702›Full record

ArticleBMJ case reports2024

Sensory neuropathy as a manifestation of multiple acyl-coenzyme A dehydrogenase deficiency.

Jessica N Harding, Nika Mohannak, Zoya Georgieva, Nicholas G Cunniffe

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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

4 authors.

Jessica N HardingUniversity of Cambridge School of Clinical Medicine, Cambridge, UK jh2215@cam.ac.uk.ORCID http://orcid.org/0009-0003-7277-7564
Nika MohannakThe University of Notre Dame Australia School of Medicine, Fremantle, Australia.
Zoya GeorgievaUniversity of Cambridge Department of Clinical Neurosciences, Cambridge, UK.
Nicholas G CunniffeClinical Neurosciences, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-7562-2838

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder which typically manifests with muscle weakness. However, despite late-onset MADD being treatable, it is often misdiagnosed, due in part to the heterogeneity of presentations. We report a case of late-onset MADD manifesting first as a sensory neuropathy before progressing to myopathic symptoms and acute metabolic decompensation. Early diagnostic workup with acylcarnitine profiling and organic acid analysis was critical in patient outcome; metabolic decompensation and myopathic symptoms were completely reversed with riboflavin supplementation and dietary modification, although sensory neuropathy persisted. Clinical consideration of MADD as part of the differential diagnosis of neuropathy with myopathy is crucial for a timely diagnosis and treatment of MADD.

Indexed as

Multiple Acyl Coenzyme A Dehydrogenase DeficiencyPeripheral Nervous System DiseasesAcyl-CoA DehydrogenaseElectron-Transferring FlavoproteinsHumansMutationRare DiseasesRiboflavinAcyl-CoA DehydrogenaseElectron-Transferring FlavoproteinsRiboflavinLipid disordersMetabolic disordersNeuro geneticsNeurologyNeuromuscular disease

Identifiers

PMID38490702
PMCPMC10946377

What OpenQuestion holds

Textmetadata
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.