Morquio syndrome

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Morquio syndrome is an inherited disease belonging to the group of mucopolysaccharide storage diseases. Two forms are recognized, type A and type B.

Type A disease is characterized by the absence of the enzyme galactosamine-6-sulfatase, and the excretion of keratan sulfate in the urine. Type B disease results from deficiency of the enzyme beta galactosidase.

In both types there is accumulation in the body and brain of abnormally large amounts of a substance called mucopolysaccharide.

Mucopolysaccharidosis type IVA (galactosamine-6-sulfatase deficiency); Mucopolysaccharidosis type IVB (beta galactosidase deficiency)

Morquio syndrome is transmitted as an autosomal recessive trait. It has several symptoms in common with other mucopolysaccharide storage diseases such as coarse facial features, short stature, and skeletal and joint abnormalities.

Like Sanfilippo syndrome, onset of symptoms is delayed until after the first year, and life expectancy may exceed 20 years. Unlike Sanfilippo syndrome, the mental development is often normal.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.