mucopolysaccharidosis

MPS are hereditary progressive disorders due to gene mutation of lysosomal enzymes needed to degrade GAGS..

GAGS:

Long chain complex carbohydrate

.
The major GAGS are chondroitin-4-sulfate, chondroitin-6-sulfate, dermatan sulfate, heparin sulfate, keratan sulfate, hyaluronan

.
Theses substances are synthesized and linked to proteins to form proteoglycans (major constituents of connective tissue, nuclear and cell membranes

)
Degradation start with removal of protein part then digestion of Gags.

Failure of GAGS degradation leads to intralysosomal accumulation of GAGS fragments interfering with cell function

MPS are autosomal recessive except Hunter disease which is X linked recessive.
The most common types are MPS III followed by MPS I and MPS II