Treatment Responsive Late Onset Lipid Storage Myopathy
ABSTRACT Multiple acyl‐CoA dehydrogenase deficiency is an autosomal recessive disorder of fatty acid metabolism. We present here the case of a 53‐year‐old previously healthy gentleman who presented with exertional dyspnoea, associated with fatigue, mild proximal lower limb weakness, and exercise intolerance.
Authors
- Rohit Bhatia (ORCID: https://orcid.org/0000-0001-7662-3202)
- Mehar Chand Sharma (ORCID: https://orcid.org/0000-0003-4948-3296)
- Ajay Kumar Garg (ORCID: https://orcid.org/0000-0002-9385-291X)
- Saman Fatima (ORCID: https://orcid.org/0000-0001-5819-1143)
- M.V. Padma Srivastava (ORCID: https://orcid.org/0000-0001-7615-9411)
- Venugopalan Y. Vishnu (ORCID: https://orcid.org/0000-0002-3654-8137)
Institutions
- Govind Ballabh Pant Hospital (IN)
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- Neurology and Clinical Neuroscience
- Published
- 2025-05-28
- DOI
- https://doi.org/10.1111/ncn3.70023
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00