To hear audio pronunciation of this topic, purchase a subscription or log in.

[mucopolysaccharide + -osis]
ABBR: MPS Any of a group of inherited disorders characterized by a deficiency of enzymes that are essential for the degradation of the mucopolysaccharides heparan sulfate, dermatan sulfate, and keratan sulfate. These chemicals are excreted in excess quantities in the urine, and they usually accumulate in macrophages, the central nervous system, endothelial cells, intimal smooth muscle cells, and fibroblasts throughout the body. Clinical changes are not usually apparent at birth, but the inherited defect can be diagnosed prior to birth by culturing amniotic fluid cells and testing them for specific enzyme activity. After birth, the conditions may be diagnosed by testing cultured skin fibroblasts for specific enzymes. Some MPS may be treated with bone marrow transplantation.

There's more to see -- the rest of this topic is available only to subscribers.