Last Updated: September 9, 2024 Introduction to Farber Lipogranulomatosis Farber lipogranulomatosis is a rare autosomal recessive disease that belongs to a family of disorders identified as lysosomal storage diseases. This disorder is characterized by the...
Disorders of Glycoprotein and Glycolipid Degradation
Fabry Disease
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: September 9, 2024 Introduction to Fabry Disease Fabry disease belongs to a family of disorders identified as lysosomal storage diseases. This disorder is characterized by the lysosomal accumulation of glycosphingolipids with terminal α-galactosyl...
Niemann-Pick Diseases
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: September 29, 2022 Introduction to the Niemann-Pick Diseases The Niemann-Pick (NP) diseases are a group of autosomal recessive disorders that belong to a family of disorders identified as lysosomal storage diseases. There are two distinct...
Gaucher Disease
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: March 4, 2024 Introduction to Gaucher Disease Gaucher disease (pronounced "go-shay") belongs to a family of disorders identified as lysosomal storage diseases. The disease is named for the French physician, Philippe Gaucher, who first described the...
Sandhoff Disease
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: May 1, 2024 Gangliosides Gangliosides are members of the glycosphingolipid family of glycolipids. Gangliosides are glycosphingolipids that are defined by the presence of N-acetylneuraminic acid (NANA; also known as sialic acid) in varying amounts. The...
GM2 Activator Deficiency (Tay-Sachs AB Variant)
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: May 1, 2024 Gangliosides Gangliosides are members of the glycosphingolipid family of glycolipids. Gangliosides are glycosphingolipids that are defined by the presence of N-acetylneuraminic acid (NANA; also known as sialic acid) in varying amounts. The...
GM1 Gangliosidosis
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: September 9, 2024 Gangliosides Gangliosides are members of the glycosphingolipid family of glycolipids. Gangliosides are glycosphingolipids that are defined by the presence of N-acetylneuraminic acid (NANA; also known as sialic acid) in varying amounts....
Tay-Sachs Disease
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated May 1, 2024 Gangliosides Gangliosides are members of the glycosphingolipid family of glycolipids. Gangliosides are glycosphingolipids that are defined by the presence of N-acetylneuraminic acid (NANA; also known as sialic acid) in varying amounts. The...