Carnitine-Acylcarnitine Translocase Deficiency (CACTD)

Carnitine-Acylcarnitine Translocase Deficiency, also known as cact deficiency, is related to atrial standstill 1 and hypoglycemia, and has symptoms including lethargy and seizures. An important gene associated with Carnitine-Acylcarnitine Translocase Deficiency is SLC25A20 (Solute Carrier Family 25 Member 20), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drug (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and liver, and related phenotypes are hypotension and muscle weakness