MUCOPOLYSACCHARIDE

DISORDERS
What is Mucopolysaccharide?

 Mucopolysaccharides are long

chains of sugar molecules that are
found throughout the body, often in
mucus and in fluid around joints.
 Commonly called as
GLYCOSAMINOGLYCANS
 When the body cannot breakdown
mucopolysaccharides, it will cause
Mucopolysaccharidoses (MPS)
 Onset usually occur in early childhood
 Types of Mucopolysaccharidosis

 Mucopolysaccharidosis Type I
(Hurler Syndrome)
 Mucopolysaccharidosis Type II
(Hunter Syndrome)
 Mucopolysaccharidosis Type III
(Sanfilippo Syndrome)
 Hurler Syndrome
 Mucopolysaccharide accumulate in the
cornea.
 Dificient Enzyme: alpha-L iduuronidase
 Children with this disease have significant
progressive physical and mental dificiencies.
 Symptoms: abmormal bones in spine, claw
hand, cloudy corneas, deafness, halted
growth, heart valve problems, and
intellectual disability
 Hunter Syndrome

 Is inherited as sex-linked recessive

 Deficient enzyme: iduronate-2-sulfatase
 Symptoms: joints problems that make it
hard to move, numbness, weakness and
tingling in hands , Breathing problems,
coughs, colds, sinus and throat infection,
hearing loss and ear infections
 Sanfilippo Syndrome

 Severe retardation is the most of the clinical

problems.
 An autosomal recessive storage disease
 Dificient Enzyme: Heparan sulfate
sulfamidase
 Death usually occurs by the time of puberty