Rare genetic disorder can be detected early

By Alison Hsiao  /  Staff reporter

Mon, Oct 07, 2013 - Page 3

Newborn screening and early treatment of Mucopolysaccharidosis type I (MPS I) — a rare genetic disease — is now possible, thanks to breakthrough study by Mackay Memorial Hospital.

MPS I is caused by a defect in the gene that disrupts the production of an enzyme called alpha-L-iduronidase (IDUA), which eventually leads to organ damage and death.

The hospital’s pediatric genetics director, Lin Shuan-pei (林炫沛), said that babies with the disorder display no symptoms at all after birth, which is why early diagnosis is so important.

The hospital’s research team conducted a four-and-a-half-year newborn screening pilot program for MPS I, measuring IDUA activity in dried blood spots from 35,285 newborns using an enzyme assay.

The program successfully detected two newborns with the disorder before the onset of the disease and initiated follow-up checks that guarantee early medical intervention when the child starts to develop symptoms such as delayed growth or an enlarged head.

According to the hospital’s statement, the incidence of MPS diseases, which has a total of seven clinical types in Taiwan, has been estimated to be at about 1 in every 50,000 live births, while the pilot project has shown that the incidence of MPS I alone in the country is 1 per 18,000 live births, indicating that the incidence of the inherited disease had been underestimated previously.

“Taiwan is the first in the world to have developed a way to test for MPS I that is economical, easy, reliable and with evidence-based results, which have been published in an internationally renowned journal [Orphanet Journal of Rare Diseases],” Lin said.

He added that while the US and Europe also have some reports on the testing methods “however, they are more technologically taxing and expensive, costing three times to five times more than ours.”