Enzyme Replacement Therapy (ERT) is the established treatment for
LSDs and works by replacing the missing enzyme in the affected cells.
ERT has been the most successful technology to date as a treatment for
LSDs followed by small molecule therapy and SRT.
About age of presentation and severity of disease, she said these vary according to the type of
LSD, however, it is mostly below one year old children who present with it.
There is limited benefit for other
LSDs to be included in NBS programs at this moment in light of absence of supporting evidence.
Currently, Indus Hospital, National Institute of Blood Diseases, National Institute of Child Health, Children Hospital Karachi, Children Hospital Multan, Nishter Hospital, Children Hospital Lahore, Lahore General Hospital, Combined Military Hospital Rawalpindi, Shaheed Benazir Bhutto Hospital Islamabad are equipped with
LSD diagnosis and treatment facilities.
In times past, the few
LSDS that existed were such that users were either forced to work with aggregates (e.g., census data), or they consisted of massive tomes (e.g., telephone directories) or huge files (e.g., real property or medical case records) from which individual records could be retrieved.
" From diagnosis to treatment, it's a difficult experience, and the lack of understanding about the disease makes it even tougher," says Jawaharlal, Palak's grandfather, who is one of the frontrunners in the
LSD society here.
"Tony also had an
LSD which was at one time, not sure if still there, loaned to the Tolson Museum," said Mick.
Individually, each disease is rare but, as a group, the prevalence of
LSDs has been estimated from one in 5,000 to one in 7,000 individuals.
LSDs are caused by defects in the enzymes responsible for recycling waste from the cells.
Many companies manufacture
LSDs, including Polymer Laboratories, Eurosep, Alltech Associates (through its 1993 purchase of Varex' product line), ESA, Viscotek, Wyatt Technology, SEDERE, and Rheometric Scientific via its late 2000 purchase of Protein Solutions (see IBO 11/30/00).