Diseases and Disorders, Diseases of Carbohydrate Metabolism, Glycogen Storage Diseases
Last Updated: February 7, 2025 Introduction to Pompe Disease Glycogen storage disease type 2 (GSD2) is an autosomal recessive disorder that is more commonly known as Pompe disease or acid maltase deficiency (AMD). This disease was originally referred to as Pompe...
Diseases and Disorders, Disorders of Mucopolysaccharide Metabolism
Last Updated: November 9, 2025 Introduction to Maroteaux-Lamy Syndrome Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI; MPS VI) is an autosomal recessive disorder that belongs to the subfamily of lysosomal storage disorders that were historically identified as...
Diseases and Disorders, Disorders of Mucopolysaccharide Metabolism
Last Updated: November 9, 2025 Introduction to the Morquio Syndromes The Morquio syndromes (mucopolysaccharidosis type IVA and type IVB; MPS IVA and MPS IVB) represent a group of related autosomal recessive disorders that belong to the sub family of lysosomal storage...
Diseases and Disorders, Disorders of Mucopolysaccharide Metabolism
Last Updated: November 9, 2025 Introduction to the Sanfilippo Syndromes The Sanfilippo syndromes (mucopolysaccharidosis III; MPS III) are a group of autosomal recessive disorders that belong to the subfamily of lysosomal storage disorders that were historically...
Diseases and Disorders, Disorders of Glycoprotein and Glycolipid Degradation
Last Updated: November 9, 2025 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...
