Morquio syndrome

Alternative names:

mucopolysaccharidosis IV

Definition:

An inherited disease belonging to the group of mucopolysaccharide storage diseases and characterized by the absence of the enzyme 6-sulfo-N-acetylhexosaminide sulfatase and the excretion of keratosulfate in the urine.

Causes, incidence, and risk factors:

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.