Hurler Syndrome

Hurler syndrome

Denesha Shakur-Bey

symptoms & Treatments

Lysosomes and MPS 1

Two children with Mucopolysaccharidosis

Genetics of MPS 1

MPS 1 STAts

Hurler Syndrome (MPS 1)

• A rare genetic disorder that is the most severe form of Mucopolysaccharidosis type 1.

• Mucopolysaccharidosis is a group of inherited conditions where the body is unable to breakdown mucopolysccarides (glycosaminoglycans).

What are lysosomes?

• Lysosomes breakdown/ digest macromolecules
• Children with MPS 1 lack the lysosomal enzyme that breaks down mucopolysaccharides.
• Results in buildup of large sugar molecules called glycosaminoglycans (GAGs)

Genetics of MPS 1

• Autosomal recessive genetic disease.
• IDUA gene 4p16.3
• The absence of alpha-L-iduronidase, an enzyme responsible for breaking down glycosaminoglycans (GAGs).
• The build up of GAGs causes enlargement and thickening of multiple organs, connective tissue, joints, and central neverous system which causes serve functional impairment.

Symptoms & Treatments

Treatments

• Bone marrow treatment (BMT)
• replaces the blood- forming cells that are missing important proteins with healthy cells
• Stops disease from causing more damage to the organs
• Enzyme replacement therapy (ERT)
• Aldurazyme(Laronidase) replaces the diefient enzyme.
• Improves breathing and walking

• Surgical interventions:
• Adenotosillectomy
• Heria repair
• Cardiac Valve replacement
• Spinal decompression
• Speech therapies
• Respiratory support
• Carpal tunnel release
• Ventriculoperitoneal shunt

Symptoms

• Corneal clouding
• Short stature
• Coarse facial features
• Hernias
• Cardimypathy (Enlargement and stiffening of the heart muscle)
• Enlargement of spleen and liver.
• Joint stifness
• Development delay