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Last Updated: Sep 15, 2017 - 4:49:58 AM
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'India needs more specialists to combat rare genetic disorder'

Apr 18, 2013 - 8:39:48 PM


Kolkata, April 18 - India needs more specialists and better networking among doctors, geneticists and test centres to combat lysosomal storage disease -, a spectrum of rare genetic disorders that afflicts 1 in 4,000 children in India, childcare experts say.

The first task is identification of the disease followed by guidance as to what tests to opt for. Since LSD is a collection of 40 to 45 individual disorders, a test is needed to detect the exact one, Rajib Samanta of the Institute of Neuroscience, Kolkata, - told IANS.

We need doctors trained in identifying LSD and guide patients to proper testing facilities, Samanata added

LSD is caused by deficiency of enzymes that break down unwanted components in lysosomes - the cell's recycling centre that converts undesired substances to usable products.

Lack of enzymes leads to accumulation of unwanted particles in the cell, leading to symptoms like developmental delay, movement disorders, seizures, dementia, deafness and/or blindness. Some people with LSD have enlarged livers and enlarged spleens, pulmonary and cardiac problems and bones that grow abnormally.

It mostly affects children and they often die at a young and unpredictable age, many within a few months or years of birth.

Samanta said family members of the patients are usually unaware of LSD and even if they see some abnormalities, they do not know whom to approach.

According to Apurba Ghosh of the Institute of Child Health -, there is a lack of proper networking between doctors, geneticists and test centres.

Gradually, networking is being done in the western and southern parts of the country but in the east, there needs to be a proper network. Countrywide also, better networking and support facilities are needed, Ghosh told IANS.

One of the causes of LSD in India is consanguineous marriage or marriage between family members, according to Ghosh.

As consanguinity decreases, LSD will also decrease. However, the primary hindrance is the cost of treatment, he added.

This is where government needs to pitch in, the specialists said.

In western countries, there is ample government support for such genetic disorders. They have got insurance to cover these diseases too. Government support will go a long way to create awareness and fund treatment of the patients, Samanta said.

A member of LSD Support Society - agreed, saying awareness at all levels is urgently needed.

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