A clinical investigation of 228 patients with phenylketonuria in mainland China.

Neonatal screening for phenylketonuria (PKU) in Mainland China was started late and is incomplete. At the present time, it only covers 1-2% of the whole nation. There are about 1,500-2,000 PKU patients born in China annually. In this study, 228 PKU patients who were followed in our hospital were reviewed. Only 19 (8.3%) patients were detected by neonatal screening. Two hundred and nine (91.7%) cases were defined by pediatricians at the age of 1 month to 22 years, among them 94.5% had mental retardation, 48.9% developed epilepsy, and 22.9% gave up the treatment because of financial difficulty and loss of confidence in recovery. To help all of the patients, the only feasible way is the popularization of nationwide screening.