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Systemic Lipid Storage Diseases

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Author(s): Otto Braun-Falco , Gerd Plewig , Helmut H. Wolff , Richard K. Winkelmann

Publication date (Print): 1991

Publisher: Springer Berlin Heidelberg

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A CASE OF “ANGEIO-KERATOMA.”

WILLIAM ANDERSON (1898)

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Ceramidase deficiency in Farber's disease (lipogranulomatosis).

M Sugita, H. G. Moser, John Dulaney (1972)

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.