Assays / Genetic Enzymes / Farber Disease

In this disease, also called lipogranulomatosis, there is painful arthritis, subcutaneous nodules, a hoarse voice and a progressive course, usually with early death, although a few patients survive for two decades. There is usually progressive psychomotor regression although in some cases this appears only later in the course of the disease. A macular cherry-red spot is sometimes seen.

ENZYME TESTS: Deficiency of acid ceramidase is the primary defect.

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