Farber disease

Farber disease
Other namesAcid ceramidase deficiency[1]
SpecialtyEndocrinology Edit this on Wikidata

Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis",[2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid.[3] When the enzyme is deficient, this leads to an accumulation of fatty material (called ceramide) in the lysosomes of the cells, leading to the signs and symptoms of this disorder.[4]

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Farber disease". www.orpha.net. Retrieved 17 April 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  3. ^ Yu, FPS; Amintas, S; Levade, T; Medin, JA (20 July 2018). "Acid ceramidase deficiency: Farber disease and SMA-PME". Orphanet Journal of Rare Diseases. 13 (121): 20. doi:10.1186/s13023-018-0845-z. PMC 6053731. PMID 30029679.
  4. ^ Dyment, DA; Bennett, SAL; Medin, JA; Levade, T; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Mirzaa, G; Amemiya, A (2018). "ASAH1-Related Disorders". GeneReviews. PMID 29595935.