Last Updated: August 3, 2026 Introduction to the Lysosomal Storage Disorders The term "lysosomal storage disorder" (LSD; also referred to as lysosomal storage disease) encompasses a large family of inherited metabolic disorders that are associated with the...
Last Updated: July 13, 2026 Introduction to Pseudo-Hurler Polydystrophy Pseudo-Hurler polydystrophy (also called mucolipidosis III α/β, ML-IIIα/β) is an autosomal recessive disorder that is a member of the family of disorders termed lysosomal storage disorders...
Last Updated: July 13, 2026 Introduction to I-Cell disease I-cell disease (also called mucolipidosis IIA, or mucolipidosis II alpha/beta: ML-IIα/β) is an autosomal recessive disorder that belongs to the family of disorders identified as lysosomal storage disorders....
Last Updated: July 13, 2026 Introduction to Sialidosis Sialidosis is an autosomal recessive disease that belongs to the family of disorders identified as lysosomal storage disorders. This disorder is characterized by the lysosomal accumulation of...
Last Updated: July 13, 2026 Introduction to Galactosialidosis Galactosialidosis (also known as Goldberg Syndrome) belongs to the family of disorders identified as lysosomal storage disorders. Galactosialidosis is characterized by the lysosomal accumulation of...
Last Updated: July 13, 2026 Introduction to Aspartylglucosaminuria Aspartylglucosaminuria is inherited as an autosomal recessive disorder that belongs to the family of disorders identified as lysosomal storage disorders. This disorder is characterized by the...
Last Updated: July 13, 2026 Introduction to β-Mannosidosis Beta-mannosidosis (β-mannosidosis) is an autosomal recessive disorder that belongs to the family of disorders identified as lysosomal storage disorders. This disorder is characterized by the lysosomal...
Last Updated: July 13, 2026 Introduction to α-Mannosidosis Alpha-mannosidosis (α-mannosidosis) is an autosomal recessive inherited disease that belongs to the family of disorders identified as lysosomal storage disorders. This disorder is characterized by the...
Last Updated: July 13, 2026 Introduction to Fucosidosis Fucosidosis belongs to the family of disorders identified as lysosomal storage disorders. Fucosidosis is an autosomal recessive disorder that results from deficiencies in the fucosidase, alpha-L-1...
Last Updated: July 13, 2026 Introduction to MLD Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder that belongs to the family of disorders identified as lysosomal storage disorders. This disorder is characterized by the lysosomal accumulation...