Diseases result from organic or biological molecules.


Galactosialidosis is an example of a lysosomal storage disease. The disease is caused by a defect in the enzyme protecting proteins and specifically Cathepsin A. the disease occurs as a result of the mutation of the gene that codes for the production of the protein. With defect in the protein, there is an accumulation of glycopeptides, oligosaccharides in body fluids and tissues due to metabolism disturbance.

Galactosialidosis is inherited in an autosomal recessive fashion and therefore both parents must be carriers of the defective gene for the offspring to be affected phenotypically. It is a genetic condition and manifest in childhood or early adulthood. Depending on the age onset, the disease is classified into early infantile, late infantile and juvenile or adult Galactosialidosis. The symptoms and manifestations depend on the age of onset and the severity of the defect in the gene.  Due to the disturbed metabolism, and accumulated substances the symptoms of the disease include macular spots that are cherry-red, angiokeratoma, deformities in the long bones and the vertebral column and coarse facial features. In addition, the accumulation of metabolites in the cerebral-spinal fluid and other body fluids cause epilepsy-related symptoms, ataxia, and action myoclonus.

With Galactosialidosis, the main problem and which requires extensive lifestyle adjustment is the deformity in the musculoskeletal system. These deformities can cause disabilities and thus early diagnosis, monitoring and avoiding exertive exercises is important to ensure that the patient does not develop complications. However, moderate exercises are necessary to maintain bone structure. Since there is no cure for the disease, the prognosis may be improved through procedures such as bone marrow transplant and supportive care. The life expectancy is however varied with the late manifestation of the disease showing a longer life expectancy.

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