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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.
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
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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.
Free sialic acid storage disease; Freeman–Sheldon syndrome; Freiberg's disease; Freire–Maia odontotrichomelic syndrome; Freire–Maia–Pinheiro–Opitz syndrome; Frenkel–Russe syndrome; Frey's syndrome; Frias syndrome; Fried–Goldberg–Mundel syndrome; Friedel–Heid–Grosshans syndrome; Friedman–Goodman syndrome; Friedreich ataxia ...
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
Also called silent disease, silent stage, or asymptomatic disease. This is a stage in some diseases before the symptoms are first noted. [23] Terminal phase If a person will die soon from a disease, regardless of whether that disease typically causes death, then the stage between the earlier disease process and active dying is the terminal phase.
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.