Morquio syndrome

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Definition

noun

A type of lysosomal storage disease that is often caused by a deficiency of certain lysosomal enzymes resulting in the accumulation of mucopolysaccharides in the lysosomes, and thereby leads to symptoms associated with this 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 Morquio syndrome. The name is derived from the first person to describe the condition in 1929, i.e.Luis Morquio, a prominent Uruguayan physician.

Morquio syndrome (also called as mucopolysaccharidosis IV, MPS IV) is a genetic disorder that is caused by pathological mutation of genes coding for certain lysosomal enzymes normally involved in the breakdown of mucopolysaccharides. Without sufficient enzymes to process these mucopolysaccharides, the body tends to accumulate these biomolecules to an extent that the condition becomes pathological. There are two major forms of Morquio syndrome, i.e. MPS IVA and MPS IVB. N-acetyl-galactosamine-6-sulfatase is the lysosomal enzyme that is deficient in MPS IVA. The deficiency of beta-galactosidase is the cause of MPS IVB. Both forms are associated with abnormal skeletal development although individuals with this syndrome usually have normal intelligence. Other symptoms are large fingers, knock-knees, flared ribs, abnormal heart development, dwarfism, compression of spinal cord, and heart murmur.

The condition may be passed on from the parent to the offspring. It is inherited in an autosomal recessive pattern.


Synonym(s):

  • Morquio
  • Morquio-Brailsford syndrome
  • mucopolysaccharidosis IV

See also: