Mitochondrial Trifunctional Protein Deficiency (MTPD)

Mitochondrial Trifunctional Protein Deficiency, also known as tfp deficiency, is related to mitochondrial trifunctional protein deficiency 1 and abetalipoproteinemia, and has symptoms including ataxia, myalgia and weakness. An important gene associated with Mitochondrial Trifunctional Protein Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Glycerin and (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are areflexia and exercise intolerance