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.
You may have higher risks for this condition if you are experiencing these following conditions:
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:
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:
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:
Supportive care and therapy is provided for those with physical and mental disabilities.
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.