The Neonatal Screening Of Hyperphenylalaninemia In Jinan District & The Relation Of HPA's Clinic And Biochemical Characteristic With Therapertic Effect And MRI

Part 1 The incidence of hyperphenylalaninemia(HPA) in Jinan districtObject: Find the incidence of hyperphenylalaninemia(HPA) in Jinan through the newborn screening, including the incidence for classical PKUand BH4 deficiency.Methods: Doing newborn screening for HPA by bacterial inhibition assay(BIA) during 1996 to 2006 in Jinan. The baby whoes concentration of phenylalanine(phe) is higher than 2mg/dl can be diagnosed as HPA. BH4 loading tast and urine pterin analysis can be used as differental diagnosis methods for classical PKU and BH4 deficiency. Compare the incidence of HPA in Jinan and the percentage of BH4D with that of in the whole country.Result: We diagnosed 68 cases of HPA with the incidence of 1:6805 through 462,726 newborns' screening.The incidence of HPA in Jinan is higher than that of in the whole country. Among all the HPA cases, there are 63 cases of classical PKU and 5 cases of BH4D with the percentage of 7.35%, which has no significanse statistical difference with the percentage for the whole countryConclusion: The incidence for HPA in Jinan is 1:6805, which is much higher than that of in the whole country. 7.35% of HPA cases are BH4D in Jinan,which is correspondant with the percentage for the whole country.