Farber disease: pathology

Evidence-based neurology checklist on farber disease: pathology: 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…

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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