Gangliosidosis is a rare genetic disease characterized by a decrease or absence of the activity of the beta-galactosidase enzyme, which is responsible for the degradation of complex molecules, leading to their accumulation in the brain and other organs.
This disease is serious especially when it appears in the first years of life and the diagnosis is made based on the symptoms and characteristics presented by the person, as well as the result of tests that show the activity of the beta-galactosidase enzyme and the presence of the mutation in the GBL1 gene, responsible for regulating the activity of this enzyme.
main symptoms
The symptoms of gangliosidosis vary according to the age at which they appear, with the disease being considered milder when symptoms appear between 20 and 30 years of age:
- Type I or infantile gangliosidosis: Symptoms appear before 6 months of age and are characterized by progressive nervous system dysfunction, progressive deafness and blindness, muscle weakness, sensitivity to noise, enlarged liver and spleen, intellectual disability, coarse face and heart changes, for example. . Due to the large number of symptoms that can develop, this type of gangliosidosis is considered the most serious and life expectancy is 2 to 3 years;
- Type II gangliosidosis: This type of gangliosidosis can be classified as infantile-late, when symptoms appear between 1 and 3 years of age, or juvenile, when symptoms appear between 3 and 10 years of age. The main symptoms of this type of gangliosidosis are delay or regression of motor and cognitive development, brain atrophy and changes in vision. Type II gangliosidosis is considered to be of moderate severity and life expectancy varies between 5 and 10 years;
- Type II or adult gangliosidosis: Symptoms can appear from the age of 10, although it is more common to appear between 20 and 30 years old, and is characterized by involuntary stiffening of the muscles and changes in the bones of the spine, which can result in kyphosis or scoliosis, for example. This type of gangliosidosis is considered mild, however the severity of symptoms may vary according to the level of beta-galactosidase enzyme activity.
Gangliosidosis is an autosomal recessive genetic disease, that is, for a person to have the disease, their parents must at least be carriers of the mutated gene. Thus, there is a 25% chance that a person will be born with the mutation in the GBL1 gene and a 50% chance that the person will be a carrier of the gene.
How the diagnosis is made
The diagnosis of gangliosidosis is made through the evaluation of the clinical characteristics presented by the person, such as coarse face, enlarged liver and spleen, psychomotor delay and visual changes, for example, which are more frequent to appear in the earlier stages of the disease. disease.
In addition, tests are performed that help confirm the diagnosis, such as neurological imaging, blood count, in which the presence of lymphocytes with vacuoles is observed, urinalysis, in which the high concentration of oligosaccharides in the urine is identified, and genetic testing, which aims to identify the mutation responsible for the disease.
The diagnosis can also be made during pregnancy through genetic testing from the chorionic villus sample or amniotic fluid cells. If this test is positive, it is important that the family is oriented regarding the symptoms that the child may develop throughout life.
Treatment of gangliosidosis
Due to the low frequency of this disease, so far there is no well-established treatment, with symptom control, such as adequate nutrition, growth monitoring, speech therapy and physical therapy to stimulate movement and speech.
In addition, periodic eye exams and monitoring of the risk of infections and heart disease are performed.
