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An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age.




AC deficiency
Acid ceramidase deficiency
Ceramidase deficiency
Farber disease
N-laurylsphingosine deacylase deficiency


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