MucopolysaccharideMucopolysaccharidess

DR SAHAMIM AKRAMDR SAHAMIM AKRAM

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DefinitionDefinitionMUCOPOLYSACCHRIDEMUCOPOLYSACCHRIDE

A gel-like substance found in:A gel-like substance found in:

body cellsbody cells mucous secretionsmucous secretions synovial fluidssynovial fluids

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MucopolysaccharidoMucopolysaccharidosesses

Genetic disordersGenetic disorders

Deficiency of enzymes necessary Deficiency of enzymes necessary to breakdown to breakdown mucopolysaccharides (MPS) mucopolysaccharides (MPS)

Excessive accumulation of Excessive accumulation of mucopolysaccharides in body mucopolysaccharides in body tissues tissues

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MucopolysaccharidoMucopolysaccharidosesses

Results:Results:– many serious physical disorders many serious physical disorders – Various genetic deformities such Various genetic deformities such

as:as:skeletal deformities (especially of skeletal deformities (especially of the face)the face)mental retardationmental retardationdecreased life expectancydecreased life expectancy

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ExamplesExamples Hurler syndromeHurler syndromeHunter syndromeHunter syndromeScheie syndromeScheie syndromeSanfilippo syndromeSanfilippo syndromeMorquio diseaseMorquio diseaseMaroteaux-Lamy Maroteaux-Lamy syndromesyndrome

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Hurler syndrome Hurler syndrome DefinitionDefinition

An inherited disease (AR)An inherited disease (AR)

Storage of abnormal Storage of abnormal quantities of this material quantities of this material (mucopolysaccharide) in (mucopolysaccharide) in different body tissues is different body tissues is responsible for the responsible for the symptoms and appearance symptoms and appearance of the diseaseof the disease

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Hurler syndromeHurler syndrome

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Hurler syndromeHurler syndrome

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Key Symptom Images

                 

                

                

                 

                

                

                 

                

                

                 

                

Hernia

Corneal clouding

Coarse facial features

Claw hand

Mucopolysaccharidosis DiseaseMucopolysaccharidosis Disease ((Hurler, Hurler-Scheie, Scheie SyndromesHurler, Hurler-Scheie, Scheie Syndromes))

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SymptomsSymptoms

Short statureShort stature

Severe mental retardationSevere mental retardation

Thick, coarse facial features with low nasal Thick, coarse facial features with low nasal bridgebridge

Full lips with a thick, large tongue Full lips with a thick, large tongue

Increased body hair (hirsutism) Increased body hair (hirsutism)

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SymptomsSymptomsUmbilical herniaUmbilical herniaDeafness Deafness Stiffness (in joints) Stiffness (in joints) Shortness of breath Shortness of breath Abnormal bones of spine and Abnormal bones of spine and claw hand claw hand

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MPS: SignsMPS: SignsHepatomegalyHepatomegalySplenomegalySplenomegalyEnlarged tongue Enlarged tongue Retinal pigmentation Retinal pigmentation Hip dislocationHip dislocationKyphosisKyphosisHeart murmursHeart murmursHeart valve damage from Heart valve damage from thickeningthickening

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Tests that may indicate the Tests that may indicate the syndromesyndrome

Increased excretion of dermatan Increased excretion of dermatan sulfate and heparan sulfate in the sulfate and heparan sulfate in the urine urine

Absence of lysosomal alpha-L-Absence of lysosomal alpha-L-iduronidase (in cultured iduronidase (in cultured fibroblasts)fibroblasts)

Culture of cells from amniotic fluid Culture of cells from amniotic fluid obtained by amniocentesis for obtained by amniocentesis for enzyme testing (prenatal testing) enzyme testing (prenatal testing)

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Tests that may indicate the Tests that may indicate the syndromesyndrome

Abnormal histological Abnormal histological staining of white blood cells staining of white blood cells called called metachromasia metachromasia X-ray of the skeleten X-ray of the skeleten X-ray of the spineX-ray of the spineX-ray of the chestX-ray of the chestECGECG

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Hunter syndrome typeHunter syndrome type((Sulpho-idoronide sulphatase Sulpho-idoronide sulphatase

deficiencydeficiency ( (

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Hunter syndrome Hunter syndrome typetype

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Hunter syndromeHunter syndrome

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Sanfilippo syndromeSanfilippo syndrome

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Sanfilippo syndrome Sanfilippo syndrome

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Sanfilippo syndromeSanfilippo syndrome

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Morquio syndromeMorquio syndrome

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Morquio syndromeMorquio syndromeSkeletal abnormality - hand

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Skeletal abnormality: flattened Skeletal abnormality: flattened vertebraevertebrae

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Maroteaux-Lamy Maroteaux-Lamy syndromesyndrome

(N-Acetyl-galactose-amin-(N-Acetyl-galactose-amin-4-sulfatase (Arylsulfatase 4-sulfatase (Arylsulfatase

B)B)

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Maroteaux-Lamy syndrome Maroteaux-Lamy syndrome

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Maroteaux-Lamy syndromeMaroteaux-Lamy syndrome

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Features and Features and CharacteristicsCharacteristics Maroteaux-Lamy Maroteaux-Lamy

syndromesyndrome Coarse facial Coarse facial featuresfeatures

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