Rare genetic disorder can be detected early

 Mon, Oct 07, 2013        By Alison Hsiao  /  Staff reporter  / Find the original article HERE  

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.