Tissue accumulation of sulfatide and GM3 ganglioside in a patient with variant Farber disease.

Abstract

We analyzed the lipids in the tissues of a patient with an atypical form of Farber disease who developed several clinical symptoms not seen in patients with typical Farber disease (acid ceramidase deficiency). Lipids were extracted from formalin-fixed brain, liver and kidney and purified by ion exchange and silica gel column chromatographies and further by high-performance liquid chromatography on a silica gel column. We performed structural and quantitative analyses of three lipids named lipids X, Y and Z. Lipid X accumulated in the liver but not in the brain. Accumulation of lipids Y and Z was observed in liver and kidney. The content of lipid Y in the patients liver was more than ten times that in a control. The structures of lipids X, Y and Z were confirmed by means of 1H-nuclear magnetic resonance spectroscopy, fast atom bombardment mass spectrometry, infrared absorption spectroscopy, and component analysis involving gas liquid chromatography and gas chromatography-mass spectrometry. The structures of lipids X, Y and Z were identified as those of ceramide, sulfatide and GM3 ganglioside, respectively. These results suggest two possibilities. One is that the accumulation of glycolipids such as sulfatide and GM3 ganglioside is a secondary event produced by the accumulation of ceramide due to ceramidase deficiency. The other is that the accumulation of glycolipids other than ceramide is due to a deficiency of sphingolipid activator proteins which may affect the degradation of sulfatide and GM3 ganglioside as well as ceramide.

• Authors: T Fujiwaki, S Hamanaka, S Tate, F Inagaki, M Suzuki, A Suzuki, C Mori
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 234 Issue 1-2 Pg. 23-36 (Jan 31 1995) ISSN: 0009-8981 [Print] Netherlands
• PMID: 7758220 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carbohydrates
• G(M3) Ganglioside
• Lipids
• Sulfoglycosphingolipids
• Amidohydrolases
• ASAH1 protein, human
• Acid Ceramidase
• Ceramidases

Topics

• Acid Ceramidase
• Amidohydrolases (deficiency)
• Carbohydrates (analysis)
• Ceramidases
• Chromatography, Ion Exchange
• Chromatography, Thin Layer
• G(M3) Ganglioside (metabolism)
• Gas Chromatography-Mass Spectrometry
• Humans
• Infant
• Lipid Metabolism
• Lipids (analysis)
• Magnetic Resonance Spectroscopy
• Male
• Spectrometry, Mass, Fast Atom Bombardment
• Spectrophotometry, Infrared
• Sphingolipidoses (metabolism)
• Sulfoglycosphingolipids (metabolism)