Duchenne carriers: lactate dehydrogenase isoenzyme 5 in serum and muscle.
Only two (5.5%) of 36 possible of known carriers of the gene in Duchenne dystrophy showed increased lactate dehydrogenase isoenzyme 5 (LDH-5) (L/M) in serum, while creatine kinase (CK) was increased in ten (27.8%). LDH-5 and CK did not increase simultaneously; in all five known carriers CK activity was abnormal but LDH-5 was normal. In muscle biopsy, LDH-5 was reduced in patients with Duchenne dystrophy (25.6 +/- 11.5% of total, mean +/- SD; control 59.9 +/- 10.3%; p less than 0.01) and in two of nine possible carriers, but as a group the carriers did not differ from controls: (49.9 +/- 12.1%; p less than 0.05).
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology*; D009136:Muscular Dystrophies / Q000201:enzymology* / Q000235:genetics
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase