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Dr. Andrew Rynne
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Article Home Children's Health Acid Ceramidase Deficiency

Acid Ceramidase Deficiency

Acid ceramidase deficiency is a extremely rare autosomal recessive lysosomal storage disease that cause an accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system.


Types of farber’s disease

Type 1

Type 1 farber disease is characterized by subcutaneous nodules, arthritis, and laryngeal involvement. Increasing lung and neurological involvement are common.

Type 2 and 3

These types also present with subcutaneous nodules, hoarseness and lung involvement. These types are also characterized by joint pain, contractures, and failure to thrive. The central nervous system is often not involved in these types and patients may live longer than in other types.

Type 4

These types present early in infancy with an enlarged liver and spleen and histiocytic (immune cell) infiltration of the spleen, thymus, liver and lungs. Death generally occurs in the first six months of life.

Type 5

Presents with significant central nervous system disease involvement beginning in or shortly after the first year of life. Patients may have limb paralysis, mental retardation, speech difficulty, seizures and myoclonus (muscle twitching).

Signs and symptoms

  • Impaired motor and mental ability
  • Difficulty with swallowing
  • Arthritis
  • Swollen lymph nodes and joints
  • Hoarseness
  • Nodules under the skin (and sometimes in the lungs and other parts of the body)
  • Chronic shortening of muscles or tendons around joints
  • Vomiting
  • Liver and/or spleen enlargement
  • Lung disease caused by granulomas (inflammatory nodules) in the lung and interstitial pneumonitis

Tests and diagnosis

  • By observing a deficiency of ceramide in white blood cells or fibroblasts (connective tissue cells that produce material to provide structure).
  • By demonstrating a ceramide deficiency in amniotic cells or chorionic villous cells in the fetus
  • By identifying Farber bodies (seen in fibroblasts and endothelial cells)
  • If elevated levels of ceramide are seen in the urine
  • On tissue biopsy, if intracellular lipid inclusions are seen in subcutaneous (under the skin) nodules or other tissue
  • Ceramide accumulation may be seen in tissue by chromatography or mass spectrometry.


  • Currently there is no specific treatment for Farber’s disease.
  • Corticosteroids may be helpful to reduce inflammation and decrease pain.
  • Pain medication may involve narcotic and non-narcotic types as well as non-steroidal anti-inflammatory medicines.
  • Nodules, granulomas and possibly enlarged lymph nodes may be candidates for surgical removal.
  • Physical therapy and surgery may be required for relief of contractures.
  • Bone marrow transplantation, especially in patients without significant neurological involvement, may be a therapeutic option.


  • Most children with the disease die by age 2, usually from lung disease.
  • In one of the most severe forms of the disease, an enlarged liver and spleen (hepatosplenomegaly) can be diagnosed soon after birth. Children born with this form of the disease usually die within 6 months.