: Patologías humanas: Farber disease

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disease > metabolic diseases > lipoidosis > sphingolipidosis > Farber disease

disease > enzymopathy > sphingolipidosis > Farber disease

... > genetic disease > hereditary disease > lysosomal storage disease > sphingolipidosis > Farber disease

disease > metabolic diseases > lysosomal storage disease > sphingolipidosis > Farber disease

disease > enzymopathy > lysosomal storage disease > sphingolipidosis > Farber disease

Farber disease

Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare (80 cases reported worldwide to this day) autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. (Wikipedia)

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