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3 July, 16:59

Why is it important to diagnose type i gaucher disease as soon as possible after birth?

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  1. 3 July, 17:05
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    Gaucher disease is a genetic disorder that was causing a defect in a certain enzyme. This lack of enzyme will result in accumulation of glucocerebroside.

    Since it is a genetic disorder, all of the patients would be a child that still growing. The symptoms could impede their growth and might be resulting in a permanent disability. If the patient diagnosed early, enzyme replacement therapy can reduce the symptoms and allow the patient to grow disturbance, preventing long term damage.
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