Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare autosomal recessive lysosomal storage disease that cause an accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. Normally, the enzyme ceramidase breaks down fatty material in the body’s cells. In Farber Disease, the gene responsible for making this enzyme is mutated. Hence, the fatty material is never broken down and, instead, accumulates in various parts of the body, leading to the signs and symptoms of this disorder.
Read more about Farber Disease: Diagnosis and Symptoms, Prognosis, Treatment, Eponym, Genetics
Famous quotes containing the word disease:
“The artistic temperament is a disease that affects amateurs.... Artists of a large and wholesome vitality get rid of their art easily, as they breathe easily or perspire easily. But in artists of less force, the thing becomes a pressure, and produces a definite pain, which is called the artistic temperament.”
—Gilbert Keith Chesterton (1874–1936)