Intractable Rare Dis Res. 2013;2(3):72-76. (DOI: 10.5582/irdr.2013.v2.3.72)

Newborn screening and related policy against Phenylketonuria in China.

Mei L, Song PP, Xu LZ


Phenylketonuria (PKU) is a treatable and preventable inherited metabolic disease. The overall incidence of PKU in China is 1/11,144. Newborn screening is an effective method of controlling PKU. In1981, the Chinese Government initiated a newborn screening program and the number of newborns screened for PKU in China has risen each year. This review describes the current status of laws and regulations related to newborn screening for PKU in China and it identifies how China’s newborn screening program has improved as a result of these laws and regulations. Specific measures and regulations, such as those implemented by government, follow-up services, and government coverage of expenses, have been implemented in different areas where they have yielded good results. These measures and regulations may serve as a reference for other areas of China. However, measures and regulations regarding newborn screening in China still face challenges. Prenatal health examinations and national financial support are expected to play a more significant role in newborn screening for PKU in the future.

KEYWORDS: Phenylketonuria (PKU), inherited metabolic disease, incidence, newborn screening, measures and regulations

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