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NEUROLOGY 1986;36:791
© 1986 American Academy of Neurology

Very long-chain fatty acids in erythrocyte membrane sphingomyelin

Detection of ALD hemizygotes and heterozygotes

Kazuhiko Tanaka, MD, Morimi Shimada, MD, Toshiyuki Naruto, MD, Hisashi Yamamoto, MD, Yukikazu Saeki, PhD, Houshun Sai, MD and Genjiro Hirose, MD

Department of Pediatrics (Drs. Tanaka, Shimada, Naruto, and Yamamoto) and Central Research Laboratory (Dr. Saeki), Shiga University of Medical Science, Otsu; the Department of Pediatrics (Dr. Sai), Kyoto Second Red Cross Hospital, Kyoto; and the Department of Neurology (Dr. Hirose), Kanazawa Medical College, Kanazawa, Japan.

We used mass fragmentography to analyze a very long-chain fatty acid composition of erythrocyte membrane sphingomyelin. The content of hexacosanoic acid (C26:0), tetracosanoic acid (C24:0) and docosanoic acid (C22:0) in adrenoleukodystrophy (ALD) hemizygotes and heterozygotes was significantly higher than in controls. Although the ratio of C26:0 to C22:0 in 18 of the 46 controls was in the range of ALD heterozygotes, the absolute content of C26:0 and C24:0 in controls did not overlap with ALD hemizygotes or heterozygotes. The content of C26:0 and C24:0 is more reliable for detection of ALD hemizygotes and heterozygotes than the ratio of C26:0 to C22:0 when red cell sphingomyelin is used for diagnosis.

Address correspondence and reprint requests to Dr. Tanaka, Department of Pediatrics, Shiga University of Medical Science, Tsukinowa-cho, Seta, Otsu-shi, Shiga-ken, Japan 520-21.

Accepted for publication October 22, 1985.






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