Lysosomal storage diseases are inborn errors of metabolism that occur as a consequence of the malfunction of lysosomes, which involve abnormal storage of mucopolysaccharides, caused by the absence of an enzyme.
Without the enzyme, the MPS breakdown process is incomplete, causing progressive damage to the heart, bones, joints, respiratory system, and central nervous system.
Also called Hurler (MPS IH), Hurler-Scheie (MPS IHS), and Scheie (MPS IS).
MPS I encompasses a broad spectrum of severity, and the traditional classification of Hurler, Hurler Scheie, and Scheie does not adequately reflect the broad spectrum.
All individuals with MPS II have a deficiency of the enzyme "iduronate sulfatase" which results in the accumulation of mucopolysaccharides. The accumulation of mucopolysaccharides is responsible for many problems that affect people with MPS II.
Morquio disease is a mucopolysaccharide storage disorder also known as MPS IV. The disease takes its name from Dr. Morquio, a pediatrician in Uruguay, who described a family of four children affected by the disease in 1929.
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Maroteaux-Lamy disease, also known as MPS VI, is one of the rarest mucopolysaccharide diseases. It takes its name from two French doctors, Dr. Maroteaux and Dr. Lamy, who first described the condition in 1963.
Sly's disease is a mucopolysaccharide storage disorder also known as Mucopolysaccharidosis type VII (MPS VII). Sly's disease takes its name from William Sly, who originally described the disorder in 1972.
It is a condition that was first observed in 1996. It is caused by a deficiency of the enzyme, hyaluronidase.
In individuals afflicted with MPS IX, GAG accumulates resulting in symptoms of this disorder.