Definition:
Ceramidase deficiency, also known as Farber's Disease, is a group of genetically predisposed metabolic diseases named lipid storage diseases. The diseases characterize a condition wherein excessive amounts of lipids, such as fatty acids, oils, and other related substances, accumulate to harmful levels in the central nervous system, tissues, and joints. This may also affect the liver, heart, and kidneys. Ceramidase deficiency occurs in children when both parents have the protein-regulating gene sphingomyelin. Their children have a 25% chance of acquiring the disease, and a 50% chance of bearing the gene.
Treatment:
Although there is no known treatment for ceramidase deficiency, patients may be prescribed corticosteroids to lessen any pain. Bone marrow transplants may be done to remove nodes.
Unfortunately, the disease may prove fatal to infants, who can die by 2 years old. Those who are born with a milder form of the disease may last until their teenage years.
Symptoms and Signs:
Symptoms of ceramidase deficiency can exhibit themselves when the patient is as early as a few weeks old, or the symptoms can come out during later stages in life. Infants or children who have ceramidase deficiency may also exhibit other symptoms such as motor problems, mental abilities, and difficulties swallowing. Other symptoms of ceramidase deficiency include swollen joints and lymph nodes, arthritis, nodules underneath the skin and sometimes in the lungs or other body parts, vomiting, hoarseness, and shortening of muscles or the joints around tendons. A breathing tube may have to be used for patients of ceramidase deficiency, and in extreme cases, the spleen and liver increase in size.
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