Farber disease

Extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase

Nº Q1396345 ★★★

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Farber disease

Extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase

Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid.

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From Wikipedia

Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid. When the enzyme is deficient, this leads to an accumulation of fatty material (called ceramide) in the lysosomes of the cells, leading to the signs and symptoms of this disorder.

Text: Wikipédia, CC BY-SA 4.0. · Image: User:LordT modification from the original of en:User:Cburnet... (CC BY-SA 3.0) ·

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