Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.

We describe MTPD as a newly hereditary etiology of sensory neuronopathy in adults, specifically in patients with c.1528G>C mutation. MTPD should be screened for by performing plasma acylcarnitines in patients with chronic sensory neuronopathy and additional suggestive features such as exercise intolerance or retinopathy. PMID: 32253025 [PubMed - as supplied by publisher]
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research