Acid Ceramidase Deficiency

It is possible that the primary title of the record Farber’s Illness is not the name you expected. Please check the words listing to find the alternative name(s) and also condition community(s) covered by this record.

Basic synonyms

  • Acid Ceramidase Shortage
  • Farber’s Lipogranulomatosis

Disorder Subdivisions

  • None

General Discussion
Farber’s condition is an uncommon inherited metabolic condition. It is among the conditions referred to as lysosomal storage space conditions. These are acquired errors of metabolism that occur as the result of the absence or breakdown of a particular enzyme needed to damage down complex chemical compounds in the structures within cells called lysosomes. In this instance, the enzyme that is missing is acid ceramidase. The deficiency of this enzyme leads to the buildup of a compound known as ceramide and is connected with characteristic signs and also modern tissue damages, especially in the joints, liver, lung, and nerves.

Farber’s illness is typically identified by the existence of three signs: agonizing and progressively flawed joints, nodules under the skin, as well as dynamic hoarseness. Other body organ systems could likewise be entailed. Farber’s illness is acquired as an autosomal recessive hereditary attribute.

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