Last Updated: October 4, 2022 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 lysosomal...
Disorders of Glycoprotein and Glycolipid Degradation
Fabry Disease
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: August 30, 2022 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: November 15, 2022 Introduction to Sandhoff Disease Sandhoff disease is an autosomal recessive disorder that is a member of a family of disorders identified as the GM2 gangliosidoses. The GM2 gangliosidotic diseases are severe psycho-motor...
GM2 Activator Deficiency (Tay-Sachs AB Variant)
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: November 15, 2022 Introduction to GM2 Activator Deficiency GM2 activator deficiency (also called Tay-Sachs AB variant) is an autosomal recessive disorder that is a member of a family of disorders identified as the GM2 gangliosidoses. The...
GM1 Gangliosidosis
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: October 5, 2022 Introduction to GM1 Gangliosidosis GM1 gangliosidosis belongs to a family of disorders identified as lysosomal storage diseases. This disorder is an autosomal recessive disease characterized by the lysosomal accumulation of...
Tay-Sachs Disease
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated May 2, 2023 Introduction to Tay-Sachs Disease Tay-Sachs disease is an autosomal recessive disease that is a member of a family of disorders identified as the GM2 gangliosidoses. The GM2 gangliosidotic diseases are severe psycho-motor...