Alpha-mannosidosis
Alpha-mannosidosis is a rare lysosomal storage disease of the glycoprotein family of diseases and is closely related to mucopolysaccharidoses, the disease was first described by Dr Oekerman 1967.
The MPS Society supports 27 MPS and related diseases including the Mucolipidoses, other ‘storage diseases’ and the following conditions which are similar to Mucopolysaccharide Diseases.
Symptoms can vary greatly but all forms are characterised by a degree of neurodegeneration and cognitive impairment.
Aspartlglycosaminuria
Aspartylglycosaminuria (AGU) is one of the oligosaccharides storage diseases. AGU was first described by Dr Pollitt and others in 1968.
Beta-mannosidosis
Beta-mannosidosis is a rare lysosomal storage disease of the glycoprotein family of diseases and is closely related to mucopolysaccharidoses.
Farber
Farber disease is a rare, progressive disease caused by a deficiency (reduced function) of an enzyme called acid ceramidase.
Free sialic acid storage disease
Free sialic acid storage diseases (free SASDs) are rare inherited lysosomal storage diseases.
Fucosidosis
Fucosidosis is one of the oligosaccharides storage diseases, it was first described by Dr Durand in 1966.
Gaucher
Gaucher is a lysosomal storage disease.
Geleophysic Dysplasia
Geleophysic dysplasia is a very rare progressive disease which comes under a group of diseases related to the mucopolysaccharidoses.
GM1 Gangliosidosis
GM1 gangliosidosis is an inherited lysosomal storage disease that progressively destroys nerve cells (neurons) in the brain and spinal cord.
Lysosomal Acid Lipase Deficiency (LAL D)
Lysosomal acid lipase deficiency (LAL D) is a rare genetic disease that is characterised by problems in the breakdown and use of fats and cholesterol in the body.
Metachromatic leukodystrophy (MLD)
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease that progressively destroys nerve cells (neurons) in the brain and spinal cord.
Mucolipidosis Type I
Mucolipidosis type I (ML I), also known as sialidosis, is a rare inherited lysosomal storage disease, belonging to the group of oligosaccharidosis that affects many organs and tissues, including the nervous system.
Mucolipidosis Type II
Mucolipidosis Type II (ML II) is one of the lysosomal storage diseases known collectively as mucolipidoses and is also referred to as I-Cell Disease.
Mucolipidosis Type III
Mucolipidosis Type III (ML III) is one of the lysosomal storage diseases known collectively as mucolipidoses and is sometimes referred to as Pseudo-Hurler polydystrophy.
Mucolipidosis Type IV
Mucolipidosis type IV (ML IV) also known as ganglioside sialidase deficiency and sialolipidosis, is an inherited lysosomal storage disease, belonging to the group of oligosaccharidosis that affects many organs and tissues, including the nervous system.
Multiple sulphatase deficiency
Multiple sulphatase deficiency (MSD) is a lysosomal storage diseases closely related to the mucopolysaccharidoses in which all twelve of the known sulphatase enzymes are deficient or low in number.
Winchester Syndrome
Winchester syndrome is a rare inherited disease characterised by a loss of bone tissue (osteolysis), particularly in the hands and feet.