Mitochondrial Trifunctional Protein Deficiency due to <scp><i>HADHA</i></scp> Variants Masquerading as Charcot–Marie–Tooth Disease
We report a very rare isolated neuropathic phenotype of MTPD and confirm the pathogenicity of the novel variant c.1003G>A, p.(Glu335Lys). This case also highlights the need for HADHA and HADHB to be included in neuropathy gene panels as MTPD may present as CMT. Given that dietary management may prevent some complications of MTPD, achieving a diagnosis early is important.
Authors
- John C. McHugh (ORCID: https://orcid.org/0000-0001-7726-7553)
- Loai Shakerdi (ORCID: https://orcid.org/0000-0002-7625-0482)
- Sinéad M. Murphy (ORCID: https://orcid.org/0000-0002-7277-414X)
- Michael A. Farrell (ORCID: https://orcid.org/0000-0002-7708-7613)
- Gerard Mullins
- J Byrne
- Farkhanda Qaiser (ORCID: https://orcid.org/0000-0002-5456-3154)
Institutions
- University College Dublin (IE)
- Trinity College Dublin (IE)
- Beaumont Hospital (IE)
- Tallaght University Hospital (IE)
- Mater Misericordiae University Hospital (IE)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2025-08-11
- DOI
- https://doi.org/10.1111/jns.70048
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00