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Need for neonatal PKU phenylketonuria screening in China:

This article was originally published in Clinica

Executive Summary

There is "compelling evidence" that China should introduce widespread neonatal screening for phenylketonuria. Dr Weimin Yu of the China-Japan Friendship Hospital in Beijing told delegates at the recent 2nd Asian Pacific regional meeting of the International Society for Neonatal Screening in Hong Kong that PKU - although more prevalent in Caucasians - is not uncommon in China. Around one in 34,000 people are affected by the disorder. Of 230 cases of PKU from 21 Chinese provinces studied by Dr Yu, only 8.7% were diagnosed at birth using a standard blood test. The majority (70.4%) were not diagnosed until after one year of age, by which time irreversible mental retardation was unavoidable.

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