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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, 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 .
Farber disease; Fatty-acid metabolism disorder; Fibrochondrogenesis; Fine–Lubinsky syndrome; Finnish heritage disease; Follicle-stimulating hormone insensitivity; Fountain syndrome; Fraser syndrome; Friedreich's ataxia; Fucosidosis; Fumarase deficiency
John Reardon revealed that he was diagnosed with tonsil cancer.. On Dec. 24, the Hallmark actor, 49, posted two photos on Instagram while sharing the health news. The post included a photo of the ...
It appears Jenn Tran’s relationship with Dancing With the Stars pro Sasha Farber is stronger than ever. Despite their DWTS journey coming to an end following the elimination of Tran, 27, and ...
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.
At least 592 cases were reported after the alert was first raised by Congo's health ministry on Oct. 29. The ministry said the disease had a fatality rate of 6.25%.