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Farber Disease
(Acid Ceramidase Deficiency)

Farber disease is an ultra-rare lysosomal storage disease caused by a mutation in both alleles of the ASAH1 gene, resulting in the deficiency of the lysosomal enzyme acid ceramidase. This leads to the accumulation of the pro-inflammatory sphingolipid ceramide, and a macrophage driven inflammatory process causing the development of typical clinical symptoms. Like many other lysosomal storage diseases, Farber disease has a broad phenotypic spectrum, and is likely underdiagnosed.

  • Farber patient with moderate phenotype at 2 1/2 years of age
Patient with the moderate phenotype of Farber disease at 2 1/2 years of age

Farber patients typically present with the cardinal symptoms of:

  • Joint contractures or arthritis
  • Subcutaneous nodules
  • Weak or hoarse voice

It may take years for all three cardinal symptoms to appear together, and they may vary greatly in severity. Patients may also present with systemic inflammation (fever), severe pain, peripheral osteolysis, failure to thrive, and developmental delay.

In addition to Farber disease, a mutation in the ASAH1 gene and the resulting acid ceramidase deficiency may also lead to a severe neurological disorder called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy).

If you know of a child or adult with any of the symptoms of Farber disease or SMA-PME, or are a physician interested in collaboration, please get in touch with the Enzyvant team at info@enzyvant.com

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