For every lysosomal storage disease patient that a pediatrician diagnoses, they’re not just diagnosing that patient, they’re diagnosing the whole family because these are inherited diseases. They are genetic diseases, the family is at risk of having another child with an LSD. The family may already have a child or have lost a child to an LSD that wasn’t diagnosed before.Pediatricians really have to guide them through the process and the best way to do that is to have them talk with the genetic counselor who can go over the inheritance of the disease, the risks for the family. The parents and siblings can be tested. If we do identify a patient everybody in the family depending on the inheritance pattern can get tested. The biochemical testing where we look at the enzyme level is really helpful when they are diagnosing a patient who has a disease, but might be tricky when diagnosing someone who is a carrier, meaning that they have just one copy of the gene that is defective and one copy that is normal, because there will still be 50% activity left from that normal copy. The biochemical testing might come back normal or within the normal range. Therefore it’s hard to tell just from looking at the biochemistry whether they are a carrier or not. Genetic testing remains the gold standard to pick up carriers. A lot of the ethnic groups like Ashkenazi jewish, and jewish people in general have prenatal screens that include most of these LSDs.
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