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Mucopolysaccharidosis Treatment

Multimodal therapy for glycosaminoglycan storage diseases

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Mucopolysaccharidosis Treatment?

Mucopolysaccharidoses (MPS) are a group of seven major lysosomal storage disorders (MPS I-IX) with deficiency of specific enzymes degrading glycosaminoglycans.

Glycosaminoglycan accumulation in tissues causes progressive multisystem damage: skeletal, cardiac, respiratory, neurological, and ophthalmic.

Hurler syndrome (MPS I-H) is the most severe and presents in infancy with rapid neurodegeneration.

Hunter syndrome (MPS II) is X-linked and ranges from severe (with CNS involvement) to attenuated.

Treatment availability varies by subtype: ERT exists for MPS I, II, IVA, VI, VII.

Hematopoietic stem cell transplantation prevents neurocognitive decline if performed early in MPS I-H.

Symptoms

Coarse facial features, macrocephaly
Skeletal dysostosis multiplex, joint contractures
Hepatosplenomegaly, umbilical or inguinal hernias
Cardiac valve disease, cardiomyopathy
Recurrent ear infections, hearing loss
Corneal clouding (in MPS I, IVA, VI, VII)
Developmental regression in severe forms
Sleep apnea, airway compromise

Risk Factors

Consanguineous parents (most are autosomal recessive)
Male sex for MPS II (X-linked)
Family history of MPS or unexplained pediatric death
Carrier status in family
Coarse facial features in early childhood
Multiple system involvement

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Coarse facial features and skeletal abnormalities in infancy warrant metabolic evaluation.
  • Family history of MPS requires genetic counseling for parents and screening of siblings.
  • Newly diagnosed MPS requires immediate referral to a metabolic center for ERT initiation and HSCT consideration.
  • Cardiac, respiratory, or neurological deterioration in known MPS patients requires urgent reassessment.
  • Anesthesia for procedures requires specialized airway expertise due to airway abnormalities.

Treatment Methods

01
Enzyme replacement therapy (laronidase for MPS I, idursulfase for MPS II, elosulfase alfa for MPS IVA, galsulfase for MPS VI, vestronidase alfa for MPS VII).
02
Hematopoietic stem cell transplantation for severe MPS I (Hurler) before 2 years of age.
03
Cardiac valve repair or replacement for advanced valvular disease.
04
Spinal decompression for cervical cord compression.
05
Adenotonsillectomy and CPAP for upper airway obstruction.
06
Hearing aids, ophthalmologic management for corneal clouding.
07
Physical therapy and orthopedic surgery for joint contractures.
08
Investigational gene therapy and intrathecal ERT for CNS involvement.

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.