Farber’s disease is a group of inherited biochemical disorder which involves deficiency of an enzyme called ceramidase. The deficiency of this enzyme leads to harmful accumulation of certain in the body causing damage and inflammation in the joints, tissues and central nervous system. The disease can also affects other important parts of the body like liver, heart, and kidneys.
Symptoms can be noticed in the first few weeks after the baby is born. Some of the common signs and symptoms of farber’s Disease include:
The deficiency of ceramidase enzyme causes farber’s disease. It occurs when both the parents carry defective gene and pass it on to their children. The disorder affects both males and females.
There is no treatment available for farber’s disease yet. But corticosteroids can help relieve the pain and symptoms. Bone marrow transplants can help the nodes or they can also be removed surgically.
Most children with the classic form of Farber’s disease die by age 2. Individuals having a milder form of the disease may live into their teenage years.
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