carnitine palmityltransferase deficiency /kär′ni·tēn päl′mitiltrans′fərās dēfish′ənsē/ , an autosomal-recessive disorder of lipid metabolism, seen more often in men, in which the altered enzyme is abnormally regulated, resulting in muscle aches, fatigability, and myoglobinuria (but without lipid accumulation), occurring after prolonged exercise, particularly in the cold or after fasting.
