Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease.
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 C12 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.
Ben-Yoseph
Y
Y
C. S. Mott Center for Human Growth and Development, Wayne State University School of Medicine, Detroit, Michigan.
Gagné
R
R
Parvathy
M R
MR
Mitchell
D A
DA
Momoi
T
T
D055573:Acid Ceramidase; D000581:Amidohydrolases / Q000097:blood*; D055572:Ceramidases; D004796:Clinical Enzyme Tests; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000032:analysis*; D008297:Male; D013106:Sphingolipidoses / Q000201:enzymology* / Q000235:genetics
D000581:Amidohydrolases; C526693:ASAH1 protein, human; D055573:Acid Ceramidase; D055572:Ceramidases