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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]
Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. Each child born to these parents have a 25 percent chance of inheriting both copies of the ...
The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, [2] [3] with the United States and Northern European populations having slightly higher frequency with an occurrence of ...
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 ...
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]
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 ...
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.