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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.
Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. [8] Two transcript variants encoding distinct isoforms have been identified for this gene. [7]
Fabry disease; Familial alpha-lipoprotein deficiency; Familial amyloid polyneuropathy; Familial Amyloidosis, Finnish Type; Familial combined hyperlipidemia; Familial defective apolipoprotein B-100; Familial dysbetalipoproteinemia; Familial hypertriglyceridemia; Farber disease; Fibrocytic dysmucopolysaccharidosis; Fucosidosis
Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
Sidney Farber (September 30, 1903 – March 30, 1973) was an American pediatric pathologist.He is regarded as the father of modern chemotherapy for his work using folic acid antagonists to combat leukemia, which led to the development of other chemotherapeutic agents against other malignancies.
Life expectancy with Fabry disease for males was 58.2 years, compared with 74.7 years in the general population, and for females 75.4 years compared with 80.0 years in the general population, according to registry data from 2001 to 2008. The most common cause of death was cardiovascular disease, and most of those had received kidney ...
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Bruce Michael Spiegelman is an American biochemist and cell biologist. Since 2008, Spiegelman has been the Stanley J. Korsmeyer Professor of Cell Biology and Medicine at the Dana–Farber Cancer Institute and Harvard Medical School, and director of the Center for Metabolism and Chronic Disease at the Dana-Farber.