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| Disease found: | Mucolipidosis Type III or Pseudo Hurler Polydystrophy |
| Current as of: | October 8, 2024 |
| Disease Overview: | A rare lysosomal storage disease, MLIII involves defective UPD-N-acetylglucosamine-1-phosphotransferase enzyme activity (affected genes include GNPTAB and GNPTG) leading to accumulation of mucopolysaccharides and mucolipids in various tissues of the body [more]. |
| Signs and Symptoms: | Onset is typically in early childhood, including stiffness and claw-like deformity of the hands. Additional contractures and spinal deformities such as scoliosis are common; patients may acquire a waddling gait and nerve entrapments such as scoliosis [more]. Corneal clouding, retinopathy, and intellectual disability are commonly seen [more]. Cardiopulmonary disease (restrictive lung disease, valvular disease) may also occur [more]. |
| Diagnosis: | When disease is clinically suspected, molecular genetic testing of the GNPTAB and GNPTG genes is indicated [more]. Typically molecular genetic testing is part of a larger lysosomal storage disease panel. Lysosomal hydrolase activity may also be measured to establish diagnosis [more]. |
| Treatment: | No disease-specific treatment is yet available; treatment focuses on each patient's specific symptoms. Low-impact physical therapy may help reduce MSK symptoms; surgery may be needed for severe deformities [more]. |
| Clinical Management: | Early onset of yearly evaluation/screening for comorbidities including developmental status, echocardiogram for valvular deficits, corneal exam, and thorough MSK evaluation; DXA scan and pulmonary function testing can be done every 5 years [more]. Patients are at increased risk for complications with anesthesia and intubation. |
| Referral: | Patients commonly need a combination of orthopedic, rheumatologic, and genetic specialty care [more]. There are no readily available databases of expert providers; large academic children's hospitals such as Boston Children's Hospital, Boston MA, Lurie Children's Hospital, Chicago IL, and Children's Hospital of Philadelphia, Philadelphia PA have dedicated programs for lysosomal storage disorders including MLIII. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | There are currently no open trials for MLIII. |