Leukocyte and plasma N-laurylsphingosine deacylase (ceramidase) in Farber disease.

Abstract

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.

• Authors: Y Ben-Yoseph, R Gagné, M R Parvathy, D A Mitchell, T Momoi
• Journal: Clinical genetics (Clin Genet) Vol. 36 Issue 1 Pg. 38-42 (Jul 1989) ISSN: 0009-9163 [Print] Denmark
• PMID: 2504515 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Amidohydrolases
• ASAH1 protein, human
• Acid Ceramidase
• Ceramidases

Topics

• Acid Ceramidase
• Amidohydrolases (blood)
• Ceramidases
• Clinical Enzyme Tests
• Humans
• Infant
• Leukocytes (analysis)
• Male
• Sphingolipidoses (enzymology, genetics)