A clinical investigation of 228 patients with phenylketonuria in mainland China
Yanling, Y.; Qiang, G.; Zhixiang, Z.; Chunlan, M.; Lide, W.; Xiru, W.
Southeast Asian Journal of Tropical Medicine and Public Health 30(Suppl 2): 58-60
1999
ISSN/ISBN: 0125-1562 PMID: 11400786 Document Number: 6028
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.
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