Farber disease is described as an X-linked inherited disorder due to deficiency of which enzyme?

• A. Alpha-galactosidase
• B. Acid ceramidase
• C. Beta-glucosidase
• D. Beta-galactosidase

Answer: (A)

Farber disease is caused by a deficiency of acid ceramidase, an enzyme in lysosomes that breaks down ceramide into sphingosine and fatty acids. When acid ceramidase is defective, ceramide builds up in various tissues, leading to the characteristic painful joint swelling, subcutaneous nodules, and progressive neurologic decline seen in Farber disease. Inheritance is autosomal recessive, not X-linked, so the statement about X-linked inheritance isn’t correct. Among the enzymes listed, acid ceramidase is the one linked to Farber disease. The other enzymes are associated with different disorders: alpha-galactosidase deficiency causes Fabry disease; beta-glucosidase deficiency causes Gaucher disease; beta-galactosidase deficiency causes GM1 gangliosidosis.