JOURNAL ARTICLE

E70 A new mutation of uncertain significance in Farber disease.

  • Published In: Rheumatology, 2023, v. 62. P. 1 1 of 3

  • Database: Academic Search Ultimate 2 of 3

  • Authored By: Kenza, Bouayed; Yousra, Bellarhrib; Asmaa, Sakhi; Kathleen, Crosby; Thierry, Levade 3 of 3

Abstract

This article focuses on a clinical case of Farber disease, a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene leading to acid ceramidase deficiency. It reports a novel homozygous mutation, c.194T>G (p.Leu65Trp), of uncertain significance identified in a Moroccan patient, confirmed by reduced enzyme activity. The case illustrates the diagnostic challenges due to the disease's diverse symptoms, including subcutaneous nodules, joint stiffness, and hoarseness, and emphasizes the importance of genetic testing combined with enzyme assays. Currently, treatment is symptomatic and supportive, with no cure available, highlighting the need for further research and upcoming clinical trials.

Additional Information

  • Source:Rheumatology. 2023/08, Vol. 62, p1
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2023
  • ISSN:1462-0324
  • DOI:10.1093/rheumatology/kead323.070
  • Accession Number:171106902
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