Dictionary > Maroteaux–Lamy syndrome

Maroteaux–Lamy syndrome

Definition
noun
A type of lysosomal storage disease that is often caused by a deficiency in arylsulfatase resulting in the buildup of mucopolysaccharides, and thereby leads to symptoms associated with the condition
Supplement
Lysosomal storage disease is a collective term for the various metabolic disorders due to defects in lysosomal function resulting in an abnormal accumulation of toxic materials in the cell. One of them is mucopolysaccharidosis. In this condition, there is an accumulation of mucopolysaccharides (now referred to as glycosaminoglycans) in the body due to certain lysosomal enzymes that have become dysfunctional or insufficiently produced. There are many types of mucopolysaccharidosis (MPS): MPS I syndrome, Scheie syndrome (formerly, MPS V), and Hurler-Scheie syndrome, MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV (Morquio), MPS VI (Maroteaux-Lamy syndrome), and MPS VII (Sly syndrome). Maroteaux–Lamy syndrome is a metabolic disorder characterized by the accumulation of mucopolysaccharides due to inadequate levels of functional arylsulfatase B (N -acetylgalactosamine-4-sulfatase) in the lysosomes. The condition is heritable; it can be inherited in an autosomal recessive pattern. The individual with Maroteaux–Lamy syndrome possesses two copies of the defective gene, ARSB gene.
The condition is named after the two French physicians, Pierre Maroteaux and Maurice Emil Joseph Lamy, who described it.
Synonym(s):

  • mucopolysaccharidosis type VI
  • polydystrophic dwarfism

See also:

  • lysosomal storage disease
  • mucopolysaccharidosis
  • mucopolysaccharide


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