Farber&;s disease is due to the deficiency of
**Core Concept**
Farber's disease is a rare genetic disorder characterized by the accumulation of ceramides in the body due to the deficiency of an enzyme involved in their breakdown. This condition affects the metabolism of sphingolipids, a type of lipid found in cell membranes.
**Why the Correct Answer is Right**
The correct answer is Ceramidase, also known as Acid Ceramidase. This enzyme is responsible for breaking down ceramides into sphingosine and fatty acids. In Farber's disease, the deficiency of ceramidase leads to the accumulation of ceramides in various tissues, causing cellular damage and dysfunction. This results in symptoms such as muscle weakness, joint stiffness, and developmental delays.
**Why Each Wrong Option is Incorrect**
**Option B:** Sphingomyelinase is the enzyme deficient in Niemann-Pick disease, a different lysosomal storage disorder. It breaks down sphingomyelin into ceramide and phosphocholine.
**Option C:** Glucocerebrosidase is the enzyme deficient in Gaucher's disease, another lysosomal storage disorder. It breaks down glucocerebroside into glucose and ceramide.
**Option D:** Neuraminidase is the enzyme deficient in sialidosis, a rare genetic disorder that affects the breakdown of sialic acid-containing molecules.
**Clinical Pearl / High-Yield Fact**
Farber's disease is a rare condition, but it is one of the few lysosomal storage disorders that can be diagnosed prenatally through enzyme assays. This highlights the importance of confirming the diagnosis through biochemical tests, especially in cases where clinical presentation is atypical.
**Correct Answer:**
β Correct Answer: A. Ceramidase