Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase level.
Increased serum creatine kinase level is a marker of neuromuscular disorders. When combined with exercise intolerance, muscle cramps, fatigue, myoglobinuria, or muscle weakness, metabolic myopathies of a variety of causes should be considered. We encountered an adolescent male with a persistently high serum creatine kinase level and chronic fatigue who was found to have combined partial defects of carnitine palmitoyltransferase II and mitochondrial complex I. Metabolic myopathy may present with chronic fatigue and a persistently high serum creatine kinase level but without muscle weakness and may be attributable to combined enzyme defects.
Tsao
Chang-Yong
CY
Department of Pediatrics and Neurology, College of Medicine and Public Health, The Ohio State University, Columbus, USA. ctsao@chi.osu.edu
Mendell
Jerry R
JR
D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D002908:Chronic Disease; D003402:Creatine Kinase / Q000097:blood*; D003937:Diagnosis, Differential; D005221:Fatigue / Q000175:diagnosis*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis* / Q000378:metabolism; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*
D009247:NADH, NADPH Oxidoreductases; D002334:Carnitine O-Palmitoyltransferase; D003402:Creatine Kinase