Increased serum lactate dehydrogenase isoenzyme 1 and "flipped" LD-1/LD-2 ratio in myopathy associated with partial carnitine palmitoyltransferase deficiency.
We describe a case of a limb-girdle myopathy presenting with myoglobinuria. A partial deficiency of muscle carnitine palmitoyltransferase (EC 2.3.1.21) may also have been present. All "muscle-type" serum enzymes were markedly increased (to between 30- and 400-fold their respective upper reference limits) and creatine kinase (EC 2.7.3.2) isoenzyme 2 (CK-MB) was increased 130-fold but was still less than 2% of the total creatine kinase activity. The isoenzyme pattern of lactate dehydrogenase (EC 1.1.1.27) in serum was "anodic," with isoenzyme 1 greater than isoenzyme 2--an unusual pattern for myopathies. The possible physiological basis for such a finding is discussed.
Moses
G C
GC
Department of Clinical Biochemistry, University Hospital (University of Western Ontario), London, Canada.
Henderson
A R
AR
D000217:Acyltransferases / Q000172:deficiency*; D000293:Adolescent; D000410:Alanine Transaminase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D005634:Fructose-Bisphosphate Aldolase / Q000097:blood; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood*; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology* / Q000209:etiology; D009212:Myoglobinuria
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase; D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D003402:Creatine Kinase; D005634:Fructose-Bisphosphate Aldolase