Interfamily marriages could be a major cause of Lysosomal Storage Disorders


Interfamily marriages could be a major
cause of Lysosomal Storage Disorders 

Enzyme Replacement Therapy is the only specific
treatment available for LSD

KARACHI: In Pakistan more than hundred patients of Lysosomal Storage Disorders (LSD) have been diagnosed in the last 8 months and a large number of suspected cases of LSDs have been due to the strong trend of interfamily marriages. Lysosomal Storage Disorders are inherited genetic defects which affect multiple organs and cause progressive physical or mental deterioration over time. Some patients survive into adulthood, but others with more severe symptoms may die in their teens or earlier. These views were expressed by the recently formed National Core Committee members of Lysosomal Storage Disorders while addressing a press conference at Karachi recently. The Committee Members included Dr. Salman Ali, Dr. Zareen Fasih and Dr. Aisha Mehnaz from Karachi, Dr. Agha Shabbir Ali and Dr. Huma Arshad Cheema from Lahore.

Dr. Aisha Mehnaz, Dr. Huma Arshad Cheema, Dr. Zareen Fasih and
Dr. Agha Shabbir Ali addressing the Press briefing regarding
Lysosomal Storage Disorders held at Karachi recently.

Members of the LSD Core Committee highlighted the challenges faced in term of diagnoses, treatment and its funding. Presently, there are about forty five disorders in the LSDs category. Enzyme Replacement Therapy (ERT) is the only specific treatment available for some LSDs. Currently therapies are available for only 6 LSDs - Gaucher, Pompe, Fabry, Mucopolysaccharidosis (MPS) I (Hurler syndrome), MPS II (Hunter Syndrome) and MPS VI (MaroteauxLamy).Previously, it was very challenging to diagnose these cases and blood samples were sent to different countries like UK, USA, Germany, Argentina, and India for the diagnosis and the cost of each test was 12,000 to 15,000 rupees.
Experts informed that now it is easy to diagnose LSD as the screening/diagnostic support in Pakistan is now being facilitated free of cost at Children hospital Lahore, Military Hospital Rawalpindi, AKUH, Civil Hospital Karachi, NICH Karachi, Ziauddin Hospital Karachi, Nishter Hospital Multan and Children Hospital Complex Multan. Since LSDs usually affect young children, there’s a time lag before parents realize that something is wrong with their child. In some cases, months and years could pass before the child’s disease is properly diagnosed.
The speakers further stated that treatment of LSD,s is very expensive. Government should work to promote prenatal screening. Centers should be created for diagnosing these disorders during pregnancy, thereby limiting the number of affected infants being born with a rare disease. The Government should ensure that enzyme therapies are made available for the treatment of the children affected with LSDs, so that they may lead as normal life as possible, and contribute to the welfare of the country.

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