Gangliosidosis is a rare genetic disease characterized by the decrease or absence of activity of the enzyme beta-galactosidas, responsible for the degradation of complex molecules, leading to its accumulation in the brain and other organs.
This disease is especially serious when it occurs in the first years of life and is diagnosed based on the symptoms and characteristics presented by the person, as well as the results of tests showing the activity of the enzyme beta-galactosidas and the presence of the mutation in the GBL1 gene, which is responsible for regulating the activity of this enzyme.
- Symptoms of gangliosidosis vary depending on the age at which they appear.
- And the disease is considered more benign when symptoms appear between the ages of 20 and 30:.
Gangliosidosis is an autosomal recessive genetic disease, that is, for the person to present the disease it is necessary for parents to carry at least the mutated gene. Therefore, there is a 25% chance that the person will be born with the GBL1 gene mutation and 50% of the person will be a carrier of the gene.
The diagnosis of gangliosidosis is made by evaluating the clinical characteristics presented by the person, such as the macroscopic face, enlarged liver and spleen, psychomotor delay and visual disturbances, for example, that appear most frequently in the early stages of the disease. Disease.
In addition, tests are performed to help confirm the diagnosis, such as neurological imaging, a blood formula count, which shows the presence of lymphocytes with vacuoles, a urine test, identifying the high concentration of oligosaccharides in the urine, and genetic tests, which aim to identify the mutation responsible for the disease.
Diagnosis can also be made during pregnancy using genetic testing using the sample of coral villlosities or amniotic fluid cells. If this test is positive, it’s important for the family to focus on the symptoms the child can develop throughout his or her life.
Due to the low frequency of this disease, so far there is no well-established treatment, with controlled symptoms, such as adequate nutrition, growth monitoring, speech therapy and physiotherapy to stimulate movement and speech.
In addition, regular eye exams and monitoring the risk of infections and heart disease are performed.