In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the produce of the active enzyme and prevent the development and progression of the disease in question. [rarediseases.org]

• Pathologist

  Pediatricians, surgeons, specialists who diagnose and treat eye disorders (ophthalmologists), specialists who diagnose and treat disorders of the central nervous system (neurologists), speech pathologists, a medical geneticist, a psychiatrist and other [rarediseases.org]

• Irritability

  They may be restless, irritable and have difficulty sleeping through the night. Some infants exhibit microcephaly, a condition that indicates that a child’s head circumference is smaller than would otherwise be expected based on age and gender. [rarediseases.org]

Clinical Testing and Workup An enzyme assay is a test that measures the activity of a specific enzyme. [rarediseases.org]

While clinical trials are in progress on possible treatments for some of these diseases, there is currently no approved treatment for many lysosomal storage diseases. [rarediseases.org]

In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the produce of the active enzyme and prevent the development and progression of the disease in question. [rarediseases.org]