Mucopolysaccharides are gel-like substances found in body cells, mucous secretions, and synovial fluids. Mucopolysaccharidoses are genetic disorders caused by a deficiency of enzymes needed to break down mucopolysaccharides, resulting in their excessive accumulation in body tissues. This can cause skeletal deformities, mental retardation, decreased life expectancy, and other serious physical disorders. Examples of mucopolysaccharidoses include Hurler syndrome, Hunter syndrome, Scheie syndrome, Sanfilippo syndrome, Morquio disease, and Maroteaux-Lamy syndrome. Currently there is no cure for mucopolysaccharide disorders, but enzyme replacement therapy and gene therapy are areas of focus for

2. Mucopolysaccharides
DR SAHAMIM AKRAM

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Definition
MUCOPOLYSACCHRIDE
 A gel-like substance found in:
 body cells
 mucous secretions
 synovial fluids

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Mucopolysaccharidoses
Genetic disorders
Deficiency of enzymes necessary to
breakdown mucopolysaccharides (MPS)
Excessive accumulation of
mucopolysaccharides in body tissues

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Mucopolysaccharidoses
Results:
– many serious physical disorders
– Various genetic deformities such as:
skeletal deformities (especially of the
face)
mental retardation
decreased life expectancy

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Examples
Hurler syndrome
Hunter syndrome
Scheie syndrome
Sanfilippo syndrome
Morquio disease
Maroteaux-Lamy syndrome

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Hurler syndrome
Definition
An inherited disease (AR)
Storage of abnormal quantities
of this material
(mucopolysaccharide) in
different body tissues is
responsible for the symptoms
and appearance of the disease

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Hurler syndrome

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Hurler syndrome

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Key Symptom Images
Claw handCoarse
facial
features
Corneal
clouding
Hernia
Mucopolysaccharidosis Disease
(Hurler, Hurler-Scheie, Scheie Syndromes)

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Symptoms
Short stature
Severe mental retardation
Thick, coarse facial features with low
nasal bridge
Full lips with a thick, large tongue
Increased body hair (hirsutism)

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Symptoms
Umbilical hernia
Deafness
Stiffness (in joints)
Shortness of breath
Abnormal bones of spine and claw
hand

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MPS: Signs
Hepatomegaly
Splenomegaly
Enlarged tongue
Retinal pigmentation
Hip dislocation
Kyphosis
Heart murmurs
Heart valve damage from thickening

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Tests that may indicate the
syndrome
Increased excretion of dermatan
sulfate and heparan sulfate in the
urine
Absence of lysosomal alpha-L-
iduronidase (in cultured fibroblasts)
Culture of cells from amniotic fluid
obtained by amniocentesis for
enzyme testing (prenatal testing)

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Tests that may indicate the
syndrome
Abnormal histological staining of
white blood cells called
metachromasia
X-ray of the skeleten
X-ray of the spine
X-ray of the chest
ECG

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Hunter syndrome type
(Sulpho-idoronide sulphatase deficiency )

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Hunter syndrome type

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Hunter syndrome

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Sanfilippo syndrome

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Sanfilippo syndrome

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Sanfilippo syndrome

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Morquio syndrome

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Morquio syndrome
Skeletal abnormality - hand

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Skeletal abnormality: flattened
vertebrae

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Maroteaux-Lamy syndrome
(N-Acetyl-galactose-amin-4-
sulfatase (Arylsulfatase B)

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Maroteaux-Lamy syndrome

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Maroteaux-Lamy syndrome

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Features and Characteristics
Maroteaux-Lamy syndrome
Coarse facial
features

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Treatment
At the present time, there is no cure for
MPS disorders.
Enzyme replacement therapy and gene
therapy are the two treatments that
researchers have been focusing on to
eventually cure MPS diseases.
There are a number of research
institutions around the world working on
finding a cure for the MPS diseases
including facilities in the United States,
Canada, England, and Australia.