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Leukocyte and plasma N‐laurylsphingosine deacylase (ceramidase) in Farber disease
Author(s) -
BenYoseph Y.,
Gagné R.,
Parvathy M. R.,
Mitchell D. A.,
Momoi T.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb03364.x
Subject(s) - ceramide , sphingolipid , chemistry , endocrinology , substrate (aquarium) , medicine , enzyme , moiety , biochemistry , biology , stereochemistry , apoptosis , ecology
Severe deficiency of acid ceramidase activity (4–5% of normal) was demonstrated in cultured skin fibroblasts, leukocytes and plasma from a 1‐year‐old boy who was diagnosed as being affected with Farber disease. Determination of ceramidase activity in plasma was achieved by a highly sensitive assay employing a ceramide substrate containing radiolabeled C 12 N‐acyl moiety (N‐lauryl). The enzyme activity in the parents' leukocytes and plasma was found to be reduced to 18–47% of the respective normal values, and that determined in a plasma specimen from a patient with I‐cell disease was about 4 times elevated above the normal level.