A team of researchers and doctors in Taipei yesterday announced that they successfully carried out the screening of newborns for the early detection of a rare genetic disorder, which could allow for earlier treatment and greatly increase survival rates.
In 2005, the medical team at National Taiwan University Hospital (NTUH) launched the world’s first Pompe disease newborn screening project and has since diagnosed seven infants with the disease, said Hwu Wuh-liang (胡務亮), chief of the Department of Medical Genetics.
Pompe disease is a rare autosomal recessive lysosomal storage disorder caused by deficient acid alpha-glucosidase activity, which means the body suffers from a buildup of glycogen, a stored form of sugar used for energy.
Pompe patients suffer from progressive, debilitating and often life-threatening symptoms involving the musculoskeletal, respiratory and cardiac systems.
It can progress rapidly, with most victims dying before the age of one.
“This is the first large-scale study showing that newborn screening for Pompe disease is feasible,” Hwu said.
The findings were published in the July issue of Pediatrics, the official journal of the American Academy of Pediatrics.
The screening, carried out at the university’s newborn screening center, is done by taking dried blood samples within three days of birth, Hwu said.
About 45 percent of all screenings of newborns in Taiwan is done there, he said.
While the program is ongoing, the screening is free of charge at the hospital.
Once research has ended, however, screening for Pompe disease will cost about NT$200, in addition to the NT$400 for traditional screening for newborns.
Doctors and nongovernmental organizations urged the government to provide a subsidy for minority groups and low-income families.
“Even though [NT$200] may not seem like a big amount, extremely poor families may still be unable to cover the fee … We hope the government will provide a subsidy, because it is important to detect [disease] early,” Taiwan Foundation for Rare Disorders vice president Tseng Min-chieh (曾敏傑) said.
A woman surnamed Chen, the mother of a Pompe baby, said her son was diagnosed with the disease after screening at one of the clinics affiliated with NTUH.
Chen said that even though her two-year-old son had to receive injections every two weeks, she was glad the disease was identified early so that her son could live a normal life.
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