Speaking at an awareness seminar on Lysosomal Storage Disorder (LSD
) in Karachi on Saturday, National Institute of Blood Diseases (NIBD) head and consultant haematologist Prof Tahir Shamsi urged the federal and provincial governments to set up facilities for screening children suffering from blood disorders.
are approximately 50 genetic rare disorders which are caused due to enzyme deficiencies leading to the build-up of toxic substances in the body's cells.
Like all other AR disorders, the prevalence of LSDs
is expected to be high in LMICs like Pakistan due to high consanguinity rate of 62.7%.10 Seven LSDs
have Food and Drug Administration (FDA) approved treatment and active research is underway for few others.
In reply to a question, she said more than 50 children, on an average, are diagnosed with LSD
while several other could never reach the proper facilities due to its poor understanding among vast majority of family physicians.
Several states currently mandate LSD
screening in all newborns.
Olaf Bodamer: While a strong argument can be made for NBS as a seminal public health measure in general, there needs to be careful consideration and evaluation for each condition added, including LSDs
. False-positive test results, lack of adequate confirmatory testing, and identification of late-onset presentations will place an unnecessary emotional and financial burden on the family and society at large, without obvious health benefit to the individual.
KARACHI -- Federal and provincial governments here on Sunday were urged to provide free of cost treatment for children suffering from Lysosomal Storage Disorder (LSD
), once considered a rare disease in Pakistan.
In this article I focus on the now commonplace creation, use, and analysis of large-scale data sets (LSDS
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.
Dr Sujatha M Jagadeesh, Geneticist MediScan said: "Since LSDs
are rare and the patients are extremely few in number, sufferers and their families face hurdles in locating healthcare facilities and support centres that could address their ailment.
It really is a Catch- 22 situation as the symptoms of LSDs
develop slowly causing delayed diagnosis.
are inherited metabolic disorders triggered by a shortage of lysosomal enzymes.