Hereditary neuropathy with TFP protein deficiency responds to specific treatment

Chinese clinicians report the observation of a 29-year-old female patient with a childhood motor deficit in the lower limbs labeled Charcot-Marie-Tooth disease (CMT). The EMG was in favor of demyelinating disease. From the age of 24, the patient presented several episodes of rhabdomyolysis during febrile events. The results highlighted: 

• abnormalities in the profile of acylcarnitines, 
• two new pathogenic variants of the HADHB gene which codes for a subunit of the trifunctional mitochondrial protein (TFP).
• A diet low in long-chain fatty acids significantly improved the patient’s condition.

 

Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy. Guan Y, Zhang Y, Shen XM, et al. Front Neurol. 2021 Oct 12;12:694966.