Gangliosidosis
Gangliosidoses are lipid storage disorders caused by the accumulation of sugar-containing lipids, of the gangliosides. In detail, a distinction is made between GM1 gangliosidosis, GM2 gangliosidosis and GM3 gangliosidosis.
GM1 - gangliosidosis
The GM1 - gangliosidosis caused by a defect in the enzyme β -galactosidase. This leads to an abnormal storage of sugar-containing lipids, of the GM1 ganglioside, in cells of the peripheral and central nervous system. The GM1 - gangliosidosis occur in three forms:
Infantile GM1
Beginning in the neonatal period. Poor feeding, failure to gain weight, seem apathetic. In the first year of life hepatosplenomegaly, skeletal abnormalities, generalized seizures, spasticity of all limbs.
Juvenile GM1
Beginning of the 2nd and 3rd years of age. Hypotonia and ataxia. Seizures, mental retardation, spasticity of all limbs. Most decease before age 10 from severe respiratory infections.
Adult GM1
Beginning between 3 and 30 years of age. Only anecdotal reports are available. Dysarthria, gait disturbance, dystonia.
GM2 - gangliosidosis
The GM2 gangliosidoses are a group of lysosomal storage diseases in which sugar-containing lipids, ganglioside GM2, are deposited. There is an infantile ( " child ") and a juvenile / adult ( " juvenile / adult " ) onset form of GM2 gangliosidosis. These can occur as different variants:
- GM2 gangliosidosis variant B ( Tay -Sachs disease ), a defect in the enzyme hexosaminidase A
- GM2 gangliosidosis variant 0 ( Sandhoff disease ), a defect in the enzymes hexosaminidase A and B Hexoaminidase
Just because the symptoms can not distinguish between the two genetic defects.