5. Diagnosis


When suspecting an LSD it is vital than an urgent referral is made to the geneticist or the metabolic specialist. This is because a lot of these neurological LSDs tend to progress rapidly at some point and the sooner the enzyme replacement therapy is initiated the better the prognosis would be. It’s really urgent because by the time the appointment can be made and all the tests conducted months and months could have been spent getting the right treatment to the child and limiting the progression of the disease and limiting the effect on the central nervous systems that are irreversible. The enzyme assay is the gold standard for all of these lysosomal storage diseases. We are lucky because this is a group of diseases where there is a biochemical defect that we can quantify. We can test for these enzymes that are defective so we can measure how much active is each enzyme and we get results in percentages. There are several labs that can do these, a link to find these labs is provided subsequently. Ultimately the disease is going to be confirmed by DNA testing so genetic testing that will pinpoint the specific mutation in the gene that causes this enzyme deficiency.




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