KARACHI (PR): In Pakistan more than 100 patients of Lysosomal Storage Disorders (LSD) have been diagnosed in the last eight months and a large number of suspected cases of LSDs have been due to the strong trend of interfamily marriages. The leading Pediatricians dealing with Lysosomal Storage Disorders have formed a National LSD Core Committee whose aim is to aid in the diagnosis and treatment of this disorder.

Lysosomal Storage Disorders are inherited genetic defects which affect multiple organs and cause progressive physical and/or mental deterioration over time. Some patients survive into adulthood, but others with more severe symptoms may die in their teens or earlier.

Presently, there are about 45 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).

The first meeting of the National LSD Core Committee was held followed by a Press Conference to discuss the disorder with the media, and the challenges faced in term of diagnoses, treatment and funding. The Committee Members include: Dr. Huma Arshad Cheema, Professor of Pediatric Gastroenterology - Hepatology & Nutrition at Institute of Child Health and the Children’s Hospital, Lahore; Dr. Salman Ali, Principal and Head of Paediatrics at National University of Sciences and Technology, Karachi; Dr. Aisha Mehnaz, Professor and Head of the Department of Paediatrics at Dow University of Health Sciences & Civil Hospital, Karachi; Dr. Agha Shabbir Ali, Professor of Pediatric, Post Graduate Medical Institute at Lahore General Hospital, Lahore; and Dr. Zareen Fasih, Head of Department, Professor Paediatrics, Neonatologist at Ziauddin Medical University Hospital, Karachi.

Previously, it was very challenging to diagnose these cases and few doctors were sending blood samples to different countries like UK, USA, Germany, Argentina, and India for the diagnosis and the cost of each test was Rs 12,000 to Rs 15,000.

Now it is easy to diagnose LSDs as the screening/diagnostic support in Pakistan is now being facilitated free of cost at Children hospital Lahore, Military Hospital Pindi, AKUH, Civil Hospital Karachi, NICH Karachi, Ziauddin Hospital Karachi, Nishter Hospital Multan and Children Hospital Complex Multan.