Most metabolic disorders are due to a defect in an enzyme or transport protein, which results in a block in a metabolic pathway. Accumulations of toxic and harmful substrate may cause damage to nerve system, mental retardation or physical disability. However, if these diseases can be detected early, with early intervention and dietary control, patients with metabolic disorders do have a chance to live a normal and healthy life as others do. Expanded Newborn Screening (NBS) is performed with Tandem Mass Spectrometry and It takes only few drops of the infant’s heel blood to detect more than 20 different kinds of metabolic disorders, including Maple Syrup Urine Disease(MSUD), Glutaric aciduria type I(GA-I) and Isovaleric academia (IVA), etc.
Ever since the end of 2000, TFRD has been collaborating with newborn Taipei Pathology Center, Chinese Foundation of Health, National Taiwan University Hospital newborn screening center, China Medical University, Chang-Gung Hospital, Mackay Memorial Hospital for the NBS Program and have been subsidizing the screening fee for aboriginal newborns and newborns in low-income families. After years of TFRD’s advocacy, in 2006, the government finally increased the screening items to 11 items.
Newborn’s parents can learn the complete screening result by signing a consent letter.
Still, TFRD continues to subsidize aboriginal newborns even after the government took over the NBS program and have subsidized 62,253 people and the subsidy amount is $7,442,020 NT dollars.
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