Highlight text to provide feedback
| Disease found: | Mucopolysaccharidosis Type II |
| Current as of: | October 8, 2024 |
| Disease Overview: | Lysosomal storage disease caused by X-linked mutation in the iduronate 2-sulfatase (IDS) gene; impairs ability to break down glycosaminoglycans, which then accumulate in lysosomes. [more info] |
| Signs and Symptoms: | Early childhood onset (2-4 years) with cognitive deterioration, aggression, coarsening of facial features, hoarse voice and swallowing difficulty, airway obstruction, valvular disease. [more info] |
| Diagnosis: | Elevated urine glycosaminoglycans is suggestive; gene panel or IDS enzyme activity assay is required for diagnosis. |
| Treatment: | Enzyme replacement therapy with idursulfase (Elaprase) can improve non-CNS symptoms; is the standard treatment. Unlike MPS-I, stem cell transplant is less promising. CPAP ventilation and tonsillectomy may be needed to assist breathing. [more info] |
| Clinical Management: | Annual visits to monitor musculoskeletal, developmental, cardiac, and pulmonary changes. Orthopedic surgery and valve replacement may be needed; anesthesia requires special considerations if the patient has a compromised airway. [more info] |
| Referral: | Care typically requires an extensive multidisciplinary team; large academic children's hospitals often have a Lysosomal Storage Disease program. Families can access support from the National MPS Society.Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Several domestic and international studies are recruiting. |