Farber disease: pathology

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Farber disease: pathology. This is caused by mutations in the ASAH1 gene. Fully referenced neurology checklist.

Genetics and pathology

  • This is caused by mutations in the ASAH1 gene
  • The gene codes for lysosomal acid ceramidase
  • The transmission is autosomal recessive
  • The mutation results in the accumulation of ceramide in lysosomes
  • The onset is usually in early infancy but it may be late onset

References

  1. Watts RW. A historical perspective of the glycosphingolipids and sphingolipidoses. Philos Trans R Soc Lond B Biol Sci 2003; 358:975-983.
  2. Kolter T, Sandhoff K. Sphingolipid metabolism diseases. Biochim Biophys Acta 2006; 1758:2057-2079.
  3. Ehlert K, Frosch M, Fehse N, Zander A, Roth J, Vormoor J. Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J 2007; 5:15.
  4. Ekici B, Kürkçü D, Caliskan M. Farber disease: A clinical diagnosis. J Pediatr Neurosci 2012; 7:154-155. 
  5. Alamri AS, Alshowaeir DA, AlFaiz AA, Al Mousawi FH, Mahmoud AA, Alhashim AH. Optic nerve involvement in Farber lipogranulomatosis: expanding the phenotypic spectrum. J Neuroophthalmol 2019; 39:391-393. 
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