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Science 8 December 1972:
Vol. 178. no. 4065, pp. 1100 - 1102
DOI: 10.1126/science.178.4065.1100
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Articles

Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis)

Mutsumi Sugita 1, John T. Dulaney 1, and Hugo W. Moser 1

1 Eunice Kennedy Shriver Center, Walter E. Fernald State School, Waverley, Massachusetts 02178

Ceramidase activity could not be demonstrated in the kidney and cerebellum from a deceased patient with Farber's disease, whereas the activities of six control acid hydrolase enzymes appeared normal. This enzyme defect presumably accounts for the accumulation that has been described in two patients and may represent the biochemical basis of this disorder.


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