Article
Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.
Revue neurologique - 1 May 2020
Nadjar Y, Souvannanorath S, Maisonobe T, Brisset M, De Lonlay P, Schiff M, Viala K, Boutron A, Nicolas G, Laforêt P
Abstract excerpt
INTRODUCTION: Mitochondrial trifunctional protein deficiency (MTPD) is a long-chain fatty acid oxidation disorder characterized by co-existence of rhabdomyolysis episodes and peripheral neuropathy. Two phenotypes are described: generalized mitochondrial trifunctional protein deficiency (gMTPD) and isolated long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency (iLCHADD) that is always associated with the c.1528G>C...
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