Galactosialidosis - Symptoms , Causes and Treatment

Galactosialidosis is a glycoprotein storage disease. In patients with this disease Protective Protein/Cathepsin A (PPCA) enzyme is lacking in the body. This helps other two enzymes to breakdown oligosaccharides and it also protects Galactosidase and Neuraminidase from breaking down in lysosyme.. Thus with the absence of PPCA, B-Galactosidase and Neuraminidase are also lacking.

There are three types of Galactosialidosis. First one occurs to infants from birth to three months age and is called early infantile Galactosialidosis. Second is late infantile type that comes in first few months after birth. Cardiac problems, hearing loss etc can be seen. Juvenile and adult type Galactosialidosis is seen in majority of people. Symptoms appear at the age of about sixteen.

Symptom

Abnormal bone functioning, coarse facial features, red spots which can be seen on ophthalmology evaluation. Retina of the patient appear red in colour. Fluid accumulation all over body, large liver or spleen, problem with kidney functioning, heart disease etc.

Causes

It is a genetic disorder inherited from parents with PPCA complaint.

Treatment

Patients must have regular check up of genetics, ophthalmology, cardiac problems and other problems. There is no cure for the disease. Treatment is for problems caused due to Galactosialidosis. For some disease bone marrow transplant is being done. But it is not yet proved to cure the disease completely. Life expectancy is only for few years. Onl treatment is to keep the symptoms under control.

Links

http://www.mannosidosis.org/galactosialidosis.htm


http://www.hideandseek.org/diseases/galactosialidosis.html


http://www.anesthesia-analgesia.org/cgi/reprint/97/1/53.pdf


http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_galactosialidosis.asp


http://www.hideandseek.org/index.php?option=com_content&task=view&id=121&Itemid=35


http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1216979