Acid ceramidase deficiency

By Medically reviewed by Panel Perubatan Hello Doktor


What is acid ceramidase deficiency?

Farber’s disease, also known as acid ceramidase deficiency is a rare inherited condition. It is considered to be one of the diseases known as lysosomal storage diseases. These are inherited errors of metabolism that happen as the result of the lack or malfunction of a particular enzyme needed to break down complex chemical compounds in the structures within cells known as lysosomes. In this case, the enzyme that is missing is acid ceramidase. The deficiency of this enzyme leads to the accumulation of a substance known as ceramide and is associated with characteristic symptoms and progressive tissue damage, particularly in the joints, liver, lung, and nervous system.

The primary signs and symptoms of this disease are painful and deformed joints that worsen (over time), the presence of sub-surface skin nodules, voice impairment or hoarseness.

Acid ceramidase deficiency causes high fatality in very young children. Currently, the disease is treated symptomatically and there is no particular cure for this condition

How common is acid ceramidase deficiency?

Acid ceramidase deficiency is an extremely rare, congenitally inherited disorder with no gender preference. No racial or ethnic preference is observed. The disease is autosomal recessive both parents have to be carriers of the anomalous gene to transmit the condition to their offspring.

Please discuss with your doctor for further information.


What are the symptoms of acid ceramidase deficiency?

Some signs and symptoms of acid ceramidase deficiency begin to show up immediately on birth of the child, and they may progressively worsen. These signs and symptoms may include:

  • Inflamed and painful joints of the wrists, fingers, toes, elbows, ankles, and knees; joint deformity
  • Deposition of lipids (in nodular form) around the joints, beneath the skin
  • Progressively impaired speech, hoarse crying sound (which is observed initially)
  • Feeding, swallowing difficulties
  • Respiratory problems, pneumonia
  • Enlarged lymph nodes, enlarged liver and enlarged spleen
  • Weak muscles with reduced functionality, epileptic seizures, and vision problems – all caused by malfunctioning nervous system
  • Opacity of the eye (gray color), red-colored retina center
  • Sometimes, delayed mental growth is observed

When should I see my doctor?

Early diagnosis and treatment can stop this condition from worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition.

If you have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes acid ceramidase deficiency?

Many enzymes exist within the lysosome (a cell structure component), which are required to break down the body’s complex compounds. If there is a lack of any particular enzyme (or if the enzyme is functionally ineffective) due to a metabolic malfunction, then certain lipids progressively accumulate within cells causing tissue damage, at various locations of the body.

In acid ceramidase deficiency, the missing lysosomal enzyme is acid ceramidase, and the lipid that collects excessively within the cell is ceramidase. This abnormal accumulation leads to cell inflammation and injury

Acid ceramidase deficiency occurs by inheriting a defective autosomal recessive gene (known as ASAH), present on chromosome 8. This problem gene causes a deficient production of the very vital lysosomal enzyme – acid ceramidase.

Risk factors

What increases my risk for acid ceramidase deficiency?

You may have higher risks for this condition if you are experiencing these following conditions:

  • Acid ceramidase deficiency runs in the families and hence, children born in families with a medical history of the condition are at risk.
  • Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is acid ceramidase deficiency diagnosed?

If your doctor suspects that you experience acid ceramidase deficiency, he/she will perform an exam thoroughly to determine this condition. Less severe “delayed” onset combined immune deficiency (CID), usually diagnosed between age one and ten years; “Late/adult onset” CID, diagnosed in the second to fourth decades.

Some tests may be ordered:

  • CBC with differential and lymphocyte subset enumeration.
  • Coordinate further testing, antibody levels, lymphocyte proliferation to mitogens, and molecular genetic testing as deemed appropriate.

How is acid ceramidase deficiency treated?

The treatment measures for acid ceramidase deficiency are basically meant to address, the most critical of medical issues. Currently, there is no cure for this condition.

Since acid ceramidase deficiency manifests immediately after birth, rapid and intense methods are required to effectively control some of its harmful and often fatal effects. The treatment measures include:

  • The use of corticosteroids to relieve pain
  • Blocked airways due to lipid depositions, which may be cleared using a tube that is surgically inserted into the nose
  • Infants and children may require bone marrow transplants, if they do not suffer from severe lung and nervous system complications
  • In older children, surgical procedures are used to remove swollen tissue masses

Supportive care and therapy is provided for those with physical and mental disabilities.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage acid ceramidase deficiency?

If you have acid ceramidase deficiency, your children are at higher risk of inheriting the defective gene and having the condition. Genetic counseling can help you and your partner assess your risk of having children with the disease.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

msBahasa Malaysia