Better Options for Those in India with Pompe and Gaucher Disease

According to The Hindu, the Institute of Child Health (ICH) in Egmore, India is soon going to be able to offer more medical options to children with lysosomal storage disorders (LSD). By improving their laboratories and receiving government funding to be put towards enzyme replacement therapy, ICH will be better equipped to treat kids with rare disorders like Pompe and Gaucher disease.

Pompe Disease Explained

Pompe disease is a genetic disorder that results from certain mutations found in the GAA gene. In those with Pompe disease, there is a buildup of glycogen in the body which disables the functioning of various muscles, tissues, and organs. The condition is life-threatening, and some symptoms may include enlarged liver and liver problems, muscle weakness, and heart, breathing and pulmonary issues. Infants who may experience a late onset of Pompe disease typically have milder symptoms at first. The progressive condition could trigger a plethora of other physical conditions, which can be fatal. To read more about the condition, click here.

Gaucher Disease Explained

Gaucher disease, like Pompe disease, is a lysosomal storage disorder characterized by a low or non-existent level of activity from the enzyme beta-glucocerebrosidase. The beta enzyme is that which is responsible for the breakdown of the lipid glucocerebroside. If levels of glucocerebroside accumulate too much, it can cause damage to tissues and organs. There are three types of Gaucher disease and symptoms can range from mild to very severe. To read more about this condition, click here.

Advancements in India

In India, the ICH is preparing for a new LSD laboratory that would be able to treat the whole State. Already, children have been screened for lysosomal storage disorders and will be selected for treatment that is funded by the government.

The implications of the new technology and advancements at ICH are huge for those in the area.

“Children with rare genetic disorders such as Gaucher and Pompe disease are admitted to the ICH. Till now, we have been sending samples for investigation to hospitals outside the State. In future, any centre can refer children and the ICH can diagnose and arrange for treatment,” explained S. Srinivasan, the State Neonatal Intensive Care Unit Coordinator.

The LSD laboratory is expected to be ready in a few months. This hospital that will offer the new LSD screenings is designated as the Apex Center for LSD, according to head of the biochemistry department at ICH, K. Pramila.

Already children in the State are becoming identified with LSD, and this means that their treatment options and treatment path are able to be expedited once the LSD center opens up.

To learn more about this cool new development in India, click here.


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