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Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
Emmanuel Farber (October 19, 1918, Toronto, Canada – August 3, 2014, Columbia, South Carolina) was a Canadian-American physician, pathologist, biochemist, and oncologist. He is known for his research on the biochemistry of carcinogenesis .
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
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Tay–Sachs disease was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882. In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies, and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for ...
Williams raised millions for the disease. [7] After being discharged in 1948, Gustafson visited the Children's Hospital for follow-up treatments; getting rides from his Uncle in his pick-up truck from Maine to Boston. Dr. Farber privately kept in touch with Gustafson until he suffered a heart attack in his office in 1973. [7]
Infants may present with feeding difficulties with frequent vomiting, diarrhea, swelling of the abdomen, and failure to gain weight or sometimes weight loss. [2]As the disease progresses in infants, increasing fat accumulation in the liver leads to other complications including yellowing of the skin and whites of the eyes (), and a persistent low-grade fever.