Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis)

See allHide authors and affiliations

Science  08 Dec 1972:
Vol. 178, Issue 4065, pp. 1100-1102
DOI: 10.1126/science.178.4065.1100


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.