| Abstract | The incidence of phenylketonuria in mainland China is similar to that of the West and various estimates include 1:17,000, 1:16,500 and 1:11,186. The exact incidence in China in different regions still has to be clarified. Affected neonates appear normal at birth,with dark hair at birth and vomiting is rare. In infancy and childhood, the fair complexion becomes conspicuous. Head circumference is related to the degree of mental development. Investigations into phenylketonuria (PKU) in China have been conducted only in 1982. This work had progressed from surveys through management, to prenatal diagnosis. This paper reviews the work that has been done. |
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