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Neurology
Sensory neuropathy as a manifestation of multiple acyl-coenzyme A dehydrogenase deficiency
  1. Jessica N Harding1,
  2. Nika Mohannak2,
  3. Zoya Georgieva3 and
  4. Nicholas G Cunniffe4
  1. 1University of Cambridge School of Clinical Medicine, Cambridge, UK
  2. 2The University of Notre Dame Australia School of Medicine, Fremantle, Australia
  3. 3University of Cambridge Department of Clinical Neurosciences, Cambridge, UK
  4. 4Clinical Neurosciences, University of Cambridge, Cambridge, UK
  1. Correspondence to Jessica N Harding; jh2215{at}cam.ac.uk

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.

  • Neurology
  • Neuro genetics
  • Neuromuscular disease
  • Lipid disorders
  • Metabolic disorders

https://doi.org/10.1136/bcr-2023-259192

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: NC, JH, NM and ZG. The following author gave final approval of the manuscript: NC.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.