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Duchenne carriers

Lactate dehydrogenase isoenzyme 5 in serum and muscle

Neurological Institute and the Department of Neurology and the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases (Drs. Hannu Somer and Joseph Willner)' and the Department of Clinical Chemistry (Dr. Robert DeCresce), Columbia University College of Physicians and Surgeons, Presbyterian Hospital, and the Division of Medical Genetics, Department of Pediatrics (Drs. Judith Willner and Mirja Somer), Mount Sinai School of Medicine, New York. NY.

Only two (5.5%) of 36 possible or known carriers of the gene in Duchenne dystrophy showed increased lactate dehydrogenase isoenzyme 5 (LDH-5) (U/L) 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; controls 59.9 ± 10.3%; p 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 > 0.05).

Address correspondence and reprint requests to Dr. Somer, Department of Neurology, University of Helsinki, Haartmaninkatu 4, 00290 Helsinki 29, Finland.

Supported by Center Grants from the Muscular Dystrophy Association, Inc., and the National Institute for Neurological and Communicative Disorders and Stroke (NS-1766-04), and the National Foundation-March of Dimes (C-155).

Accepted for publication March 26, 1979.