|
|
|
|
||||
Mucopolysaccharide diseases and associated diseases
Background
These rare lysosomal diseases are each caused by a different enzyme deficiency. This results in Mucopolysaccharides being stored in cells of the body causing progressive damage.
The Mucopolysaccharide diseases are classified as MPS I-IX. They are named after the doctor who first described them:
Hurler (MPS IH) alpha-L-iduronidase deficiency
Hurler Scheie (MPS IHS) alpha-L-iduronidase deficiency (formerly MPS V)
Scheie (MPS IS) alpha-L-iduronidase deficiency
Hunter (MPS II) alpha-L-iduronidase-2-sulphate-sulphatase deficiency
Sanfilippo (MPS III) Four distinct enzyme abnormalities, same clinical patterns
Morquio (MPS IV) A Galactosamine-6-sulphate sulphatase
Morquio (MPS IV) B beta-Galactosidase
Maroteaux Lamy (MPS VI) N-acetyl galactosamine-4-sulphatase deficiency
Sly (MPS VII) beta-gluconidase deficiency
MPS IX Hyaluronidase deficiency
The mucolipidoses and other storage diseases are as follows:
ML I Neuramidase Deficiency
ML II I Cell disease (also known as Leroy syndrome)
ML III Pseudo Hurler Polydystrophy
ML IV
Sialidosis
Fucosidosis
Mannosidosis
Sialic Acid Storage disease
Multiple Sulphatase Deficiency
Aspartylglycosaminuria
Winchester syndrome
Fabry disease
Donate Now
makingcontact.org
Pounds for parents
Subscribe to the 
