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Lysosomal Storage Disorder

Gaucher disease is one of the most common lysosomal storage disorders (LSDs). LSDs are inherited disorders resulting from a lack of specific enzymes that break down certain lipids (fats) or carbohydrates (sugars) in the body cells.

If a person does not have enough of one of these enzymes, the body cannot break down the fat or carbohydrate targeted by enzymes for recycling. These fats or sugars accumulate in cell lysosomes where enzymes are active, disrupting normal function and causing lysosomal storage disorders.

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Dried Blood Spot Collection Technique

The supplemental newborn screening study is a research project that identifies several metabolic disorders. These metabolic disorders are not currently a part of the mandatory routine screening that every baby receives while at the hospital. Participation in the supplemental newborn screening study is voluntary. In the hospital, you will be asked to sign a consent form to let the hospital staff know whether or not you want your baby to participate.

Agreeing to participate means that the blood sample already taken for the mandatory routine screening will be tested for more disorders. If you participate, there is no additional cost to you, and it does not require taking any more blood from your baby...

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Object of the Study

Lysosomal storage disorders (LSD) result from the inherited deficiency of 1 or more of the mostly catabolic enzymes that are located within the Lysosome. Their prevalence in India is yet unknown. As a group, LSDs occur in approximately one in 5000 live births. However, the treatable disorders are extremely rare and have incidence ranging from 1 in 40,000 to 1 in 100,000 births (1) .

If the above data is extrapolated ,in India, every year, around 500 babies born every year are likely to be affected by treatable LSDs where as approximately 3000 new cases of LSD are born every year . The number actually diagnosed with an LSD would be much lesser, as a significant proportion may not come to light owing to poor index of suspicion amongst our medical fraternity, poor diagnostic facilities...

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