carnitine palmityltransferase deficiency

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.
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Carnitine Palmityltransferase Deficiency Type II (CPT II)(*)--CPT II affects males more than females and is more apparent in people with diabetes or malnutrition.
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