Month: May 2019

What is Gangliosidosis GM2? GM2 gangliosidosis is a progressive neurodegenerative disease from the group of gangliosidosis, which in its classic infantile form usually leads to death at the age of 2–3 years. The incidence is

What is Gangliosidosis GM1 Type I? GM1-gangliosidosis type I (generalized familial gangliosidosis, neurovisceral lipidosis, b-galactosidase deficiency) is characterized by an autosomal recessively inherited deficiency of the enzyme GM1-b-galactosadase. The activity of this enzyme in the

What is Niemann’s Disease – Pick (Sphingomyelinosis)? Niman’s disease – Pick (sphingomyelinosis) (early childhood form). The incidence is 1 case per 100,000 children. The disease was described by A. Niemann in 1914 and in 1922.

What is I-cell Disease (Type II Mucosolipidosis)? I-cell disease (type II mucosolipidosis) is a disease that is associated with impaired cleavage of mucopolysaccharides and sphingoglycolipids. In this regard, it is clinically manifested by symptoms characteristic