Hurler Syndrome

Hurler syndrome

Denesha Shakur-Bey

Lysosomes and MPS 1

Genetics of MPS 1

symptoms &Treatments

MPS 1 STAts

Two children with Mucopolysaccharidosis

References Donati, M. A., Pasquini, E., Spada, M., Polo, G., & Burlina, A. (2018). Newborn screening in mucopolysaccharidoses. Italian journal of pediatrics, 44(2), 25-34. Sakuru, R., & Bollu, P. C. (2020). Hurler syndrome. StatPearls [Internet]. Tomatsu, S., Pitz, S., & Hampel, U. (2019). Ophthalmological findings in mucopolysaccharidoses. Journal of clinical medicine, 8(9), 1467. U.S. National Library of Medicine. (2020, August 18). Mucopolysaccharidosis type I: Medlineplus genetics. MedlinePlus. Retrieved November 22, 2021, from https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-i/#resources. Kiely, B. T., Kohler, J. L., Coletti, H. Y., Poe, M. D., & Escolar, M. L. (2017). Early disease progression of Hurler syndrome. Orphanet journal of rare diseases, 12(1), 1-10.

1 in 100,00 live births in the United states

MFS 1 affects males and females equally with an incidence of 1 in 100,000 every year.

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).

• Mucopolysaccharidosis has 3 forms.
  • Hurler syndrome
    • Most serve
    • 7 years life expectancy
    • Diagnosed around the age of 1-7 years old
  • Hurler-scheie
    • 20 years life expectancy
    • Diagnosed 0.2-36 years old
  • Scheie
    • Least serve
    • Adulthood
    • Diagnosed around 2-54 years old

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

Symptoms & Treatments

• 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

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

A). Coarse facial features B). Claw hands C. Umbilical hernia D. Kyphosis and oar shaped ribs