What is gangliosidosis?

Gangliosidosis is a rare type of lipidosis or lipid storage disorders in which lipids are affected by gangliosides. Lipid storage disorders are hereditary disorders in which a harmful amount of lipids or fats accumulate in body tissues and cells. Gangliosides are lipids placed on the surface of cells. There are two different forms of gangliosidosis that affect two different types of gangliosides called GM1 and GM2. Both types of diseases are caused by a recessive gene, which means that both parents must be carriers in order for their child to be inherited by the disorder.

Gmi gangliosidosis occurs in three forms, depending on when symptoms begin: early infantile, late infantile and adult. Early infantile GM1 is the most serious and symptoms occur shortly after birth. Symptoms include neurodegeneration or death of neurons, seizures, liver enlargement and/or spleen. Other common symptoms include skeletal discrepancies and muscle weakness, coarse facial features and red spots in OKU, stretched abdomen and stiff joints. Children with early infantile GM1 often do not hear and blind in the first year of life and often die three ages, usually from heart complications of pneumonia.

Late infantile GM1 gangliosidosis occurs for the first time between ages of one and three and is characterized by lack of coordination of muscles, seizures, dementia and speech disorder. The suffering of adults GM1 is beginning to show symptoms aged three and 30 years. As in other forms of the disease, the presence of muscle and nerve degeneration, but usually proceeds in a slower rate than in infantile forms of the disease. Other possible symptoms are corneal and dystonia, in which the muscles involuntarily withdraw into the twisted positions. Some suffering GM1 adults develop red or blue lesions called angiokerratomas on the lower half of their body.

gm2 gangliosidosis also has three varieties: Tay-Sachs' diseasesand, Sandhoff's disease and AB variant, all of which are fatal, with the exception of very rare cases of late onset. All forms of GM2 gangliosidosis are characterized by rapid degeneration of the central nervous system, consisting of brain and spinal cord. GM2 can be infantile, youthful or late onset. These three varieties are clinically vague apart, although they have different genetic causes and affect different enzymes in the body.

Only forms of GM2 gangliosidosis are not fatal, while suffering infantile and juvenile forms rarely live past childhood. The forms of late onset are the most precious, while infantile varieties are the most common. Gangliosides GM2 cause a number of neurological problems, including deafness, blindness, mental and psychological deterioration and muscle atrophy.

none of the gangliosidosa varieties is treatable and most of them lead to death at an early age. However, as the genetic basis of the disease is known, potential parents may know if they are at risk of a child with one of thethese disorders through a simple blood test. The disease is therefore completely prevented.