Mucopolysaccharides

Presented To:
Mam Zenab Saqib
Group Members
• Shafaq Nawaz 17461507-003
• Nimra Zahid 17461507-037
• Amina 17461507-034
• Nazish 17461507-006
Definition
• Mucopolysaccharides are also called
glysaminoglycans.
• Are long unbranched polysaccharides consisting
of a repeating disaccharide unit.
• group of metabolic diseases in which abnormal
accumulations of glycosaminoglycans because of
enzyme deficiencies
Major Components
• Amino acid & uranic acid is a one unit .
• And they form a bond
• One bond is formed between amino sugar and
uronic acid
• And the other bond is formed between one unit
and the other unit
 Hylaronic acid Chondratin Dermatin Haparin
acid sulfate sulfate

Amino n- aetyl n- acetyl n- acetyl – d- d- glucose

sugar deglycosamine glactosamine 416 glactosamine 4 sulfate
sulfate sulfate

Uronic D- glucouronic D- glucouronic L- iodouronic D- glucouronic

acid acid acid acid acid

Bond 1-3 1-3 1-3 1-4

• Hyaluranic acid :
 Polysaccharide , one of the chief components of
connective tissue forming gelatinous matrix
• Chondratin sulfate:
 Composed of a chain of alternatimg sugars
• Dermatin sulfate:
 Found mostly as in skins and lungs
• Haparin sulfate:
 Found in animal tissues and is a linear polysaccharides
• Keratin sulfate:
 Found in cartilage and in bone
Functions
• Natural lubricant in joints
• Impart elasticity to connective tissue
• As a component of cartilage and ligaments,
mucopolysaccharides involved in support and
motor functions
• Also have bactericidal properties
Mucopolysaccharidoses
• Group of rare genetic disorders of GAG
• Each MPS disorder is caused by the activity of a
single, specific lysosomal enzyme required for
GAG degradation
• These diseases are characterized by
accumulation of partially degraded GAG within
the lysosomes and the elevation of GAG
fragments in urine,blood and cerebral spinal
fluid.
• Results in progressive cellular damage ,which
can effect multiple organ systems and lead to
organ failure, cognitive impairment and reduced
life expectancy
• Skeletal and joint abnormalities are a prominent
features of many of the MPS disorder
• Skeletal dysplasia, decreased joint mobility,
short stature
MPS Disorders
• MPS type 1
 Hurler, Hurler - Scheie & Scheie syndromes
• MPS type 2
 Hunter syndrome (iduronate sulfatas deficiency)
• MPS type 3
 Sanfilippo syndrome
• MPS type 4
 Morquio syndrome
MPS TYPE 1
• Inherited as an autosomal recessive trait
• Metabolic defect cause of lysosomal alpha-L-
idoronidase deficiency
• newborn infants with this defect appear normsl
at birth
• By the end of the first year , signs of impending
problems begin to develop
MPS Type 2
• X- linked
• Coarse ,thick,facial features
• Progressiveness stiffness
• Decreased mental development
• Hepatomegaly (liver enlargement)
• Abnormal bone X- rays
MPS Type 3
• An autosomal recessive trait
• Most common of the mucopolysaccharides
storage diseases
• It has a relatively late onset rather than during
the first year of life
• It is characterized by the absence of one of the
several enzymes
MPS Type 4
• Subtypes A&B
• Type 4 A:
▫ N- acetyl galactoseamine 6- sulfates deficiency
• Tye 4 B:
▫ Beta – Galactosidase deficiency
symptoms
• By one year of age signs and symptoms of
disorders become apparent
• Affected systems include skeletal, neurological ,
cardiovascular , hearing ,digestive , vision and
respiratory
• Symptoms can be severe including joint
,deformities, deafness, blindness and significant
developmental regression
Management of MPS
• Hematopoeitic stem cells transplantation results in
significant clinical improvement of somatic disease
in MPS 1 & 2
• Enzyme replacement using recombinant enzymes is
approved for patients with MPS 1 & 2
• There is no cure for MPS
• The goal of management is to decrease the severity
of symptoms and increase life span through bone
marrow transplant ,hematpoeitic stem cells
transplant (HSCT) before age 2 and enzyme
replacement therapy
Incidence
• Incidence among males of approximately 1 in
130,000 male live births
• MPS 2 effects individulas may increase risks
specific in male populations
Inheritance patterns
• MPS 2 is inherited in an X- Linked recessive
inheritance manner
• The mother less in carrier and father are more
inform to be IDS carriers
• Summary:
 Lysosomes contain hydrostatic enzymes which helps in
the digestion of the cells.
 Lysosomal storage disease: is a group of disorders that
effects specific enzymes.
 mucopolysaccharidosis is a hereditary disorder.