Lipid Accumulation in Faber’s Disease and Tay-Sach’s Disease
Faber’s Disease
Lipid Accumulated
In Faber’s disease, the lipid that accumulates is ceramide.
Cause
- Faber’s disease is a rare lysosomal storage disorder caused by a deficiency of the enzyme acid ceramidase.
- This leads to impaired breakdown of ceramide, resulting in its accumulation within lysosomes.
Signs and Symptoms
- Severe joint pain and swelling (especially in knees and ankles)
- Hoarseness of voice due to laryngeal involvement
- Subcutaneous nodules (fat lumps under the skin)
- Progressive neurological deterioration in severe cases
- Failure to thrive and poor development in infants
Tay-Sach’s Disease
Lipid Accumulated
In Tay-Sach’s disease, the lipid that accumulates is GM2 ganglioside.
Cause
- Tay-Sach’s disease results from a deficiency of the enzyme hexosaminidase A.
- This enzyme normally degrades GM2 ganglioside in neurons. Its absence leads to toxic accumulation of GM2 gangliosides in nerve cells, especially in the brain and spinal cord.
Signs and Symptoms
- Normal development for the first few months after birth, followed by rapid regression
- Progressive neurological decline, including loss of motor skills
- Muscle weakness and paralysis
- Exaggerated startle response
- Cherry-red spot in the retina (a diagnostic feature)
- Seizures and eventual blindness
- Death typically occurs by age 4 in classic infantile form
Conclusion
Both Faber’s disease and Tay-Sach’s disease are devastating lysosomal storage disorders resulting from defective enzymes. They cause the accumulation of ceramide and GM2 ganglioside, respectively, leading to severe systemic and neurological symptoms. Early diagnosis and genetic counseling are crucial for managing these inherited metabolic conditions.