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A Chemical Study With Isolation and Characterization of Membranous Cytoplasmic Bodies and Myelin

Shigehiko Kamoshita, MD; Alan M. Aron, MD; Kinuko Suzuki, MD; Kunihiko Suzuki, MD

Am J Dis Child. 1969;117(4):379-394.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

NIEMANN-Pick disease is an inborn error of lipid metabolism characterized by abnormal accumulation of sphingomyelin in various organs. Crocker¹ divided the disease into the following four subgroups based on the combined clinical and chemical studies: classical infantile form (type A), visceral form (type B), subacute or juvenile form (type C), and Nova Scotian variant (type D). This classification seems to be generally accepted, but the well documented adult Neimann-Pick disease^2,3 can be added as the fifth form. A recent investigation⁴ indicated that the deficiency of sphingomyelinase, an enzyme which hydrolyzes sphingomyelin, is the basic enzymatic defect of Niemann-Pick disease. A more comprehensive study⁵ of this enzyme revealed its deficiency only in the infantile and visceral forms. According to Crocker,¹ the classical infantile form is the only one showing increased sphingomyelin in the brain.

A characteristic pathological change of the central nervous system in infantile Niemann-Pick . . . [Full Text PDF of this Article]

Author Affiliations
New York

From the Saul R. Korey Department of Neurology (Drs. Kamoshita and Kunihiko Suzuki), and the Department of Pathology (Dr. Kinuko Suzuki), Albert Einstein College of Medicine; and the Division of Child Neurology, Departments of Neurology and Pediatrics, Mount Sinai School of Medicine (Dr. Aron), New York. Dr. Kamoshita is now with the Department of Pediatrics, University of Tokyo, Tokyo. Dr. Kunihiko Suzuki is now with the Department of Neurology and Dr. Kinuko Suzuki is with the Department of Pathology, Hospital of the University of Pennsylvania, Philadelphia.

Footnotes
Received for publication July 22, 1968.

Reprint requests to Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia 19104 (Dr. Kunihiko Suzuki).

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