‘Early diagnosis can save patients with genetic disorders’

By IANS,

New Delhi : Several patients, their family members and doctors Tuesday got together to observe the 6th annual International MPS (Mucopolysaccharidoses) Awareness Day, to educate people about this group of life-threatening genetic disorders.


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The workshop was conducted by the Lysosomal Storage Disorders Support Society (LSDSS) at the Maulana Azad Medical College to spread awareness about the rare disease.

MPS is a group of genetic conditions wherein the absence or deficiency of an enzyme causes several problems, including developmental delays and retardation. The disease is estimated to occur only in about one of every 25,000 births.

“The aim of LSDSS is to create a strong voice for children in India suffering from LSDs (lysosomal storage disorders), MPS and other genetic diseases,” said Manjit Singh, treasurer and state co-ordinator, LSDSS, Delhi.

Singh said that while early diagnosis and treatment may help afflicted children recover and lead a near-normal life, delay in treatment could result in early demise of the suffering child.

Ratna Dua Puri, senior consultant at the Centre of Medical Genetics in Sir Ganga Ram Hosptial here, said the awareness for MPS was low even among medical practitioners.

“In many cases, the problem is attributed to other disorders, resulting in crucial delays in diagnosis and treatment of patients. Lack of awareness needs to be overcome to ensure patient health and wellbeing,” said Puri.

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