Last Updated: September 15, 2022 Introduction to Pseudo-Hurler Polydystrophy Pseudo-Hurler polydystrophy (also called mucolipidosis III α/β, ML-IIIα/β) is an autosomal recessive disorder that results as a consequence of defective targeting of lysosomal hydrolases to...
Last Updated: October 2, 2022 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 results as a consequence of defective targeting of lysosomal hydrolases to the...
Last Updated: May 1, 2024 Introduction to Sialidosis Sialidosis is an autosomal recessive disease that belongs to a family of disorders identified as lysosomal storage diseases. This disorder is characterized by the lysosomal accumulation of sialyloligosaccharides...
Last Updated: September 9, 2024 Introduction to Galactosialidosis Galactosialidosis (also known as Goldberg Syndrome) belongs to a family of disorders identified as lysosomal storage diseases. This disorder is characterized by the lysosomal accumulation of...
Last Updated: May 1, 2024 Introduction to Aspartylglucosaminuria Aspartylglucosaminuria is inherited as an autosomal recessive disorder that belongs to a family of disorders identified as lysosomal storage diseases. This disorder is characterized by the lysosomal...
Last Updated: May 1, 2024 Introduction to β-Mannosidosis β-Mannosidosis is an autosomal recessive disorder that belongs to a family of disorders identified as lysosomal storage diseases. This disorder is characterized by the lysosomal accumulation of the disaccharide...
Last Updated: September 21, 2022 Introduction to α-Mannosidosis α-Mannosidosis is an autosomal recessive inherited disease that belongs to a family of disorders identified as lysosomal storage diseases. This disorder is characterized by the lysosomal accumulation...
Last Updated: September 21, 2022 Introduction to Fucosidosis Fucosidosis belongs to a family of disorders identified as lysosomal storage diseases. Fucosidosis is an autosomal recessive disorder that results from deficiencies in the fucosidase, alpha-L-1...
Last Updated: September 28, 2022 Introduction to MLD Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder that belongs to a family of disorders identified as lysosomal storage diseases. This disorder is characterized by the lysosomal accumulation...
Last Updated: September 9, 2024 Introduction to Krabbe Disease Krabbe (pronounced "crab A") disease (also known as globoid cell leukodystrophy) is an autosomal recessive disorder that belongs to a family of disorders identified as lysosomal storage diseases. The...