Newborn Screening for Phenylketonuria

Present Newborn Screening for Phenylketonuria

Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening.

This study was to investigate the current status of neonatal screening in China, to further clarify the incidences of hyperphenylalaninemia (HPA) and congenital hypothyroidism (CH). From 2000 to 2007, a total of 17,961,826 newborns had been screened for HPA and 1527 cases were detected, giving a HPA prevalence of 1:11,763. At the same time, 18,284,745 newborns had also been tested for CH, with ...

Newborn screening and related policy against Phenylketonuria in China.

Phenylketonuria (PKU) is a treatable and preventable inherited metabolic disease. The overall incidence of PKU in China is 1/11,144. Newborn screening is an effective method of controlling PKU. In1981, the Chinese Government initiated a newborn screening program and the number of newborns screened for PKU in China has risen each year. This review describes the current status of laws and regulat...

Detection of phenylketonuria by the newborn screening program in Thailand.

This study evaluated the newborn screening program for phenylketonuria (PKU) in Thailand from 1996 to 2006. During the study period, 5,243,841 newborns were screened, of which 16 were confirmed to have PKU. The phenylalanine levels ranged from 20.30-30.68 mg/dl (mean 25.82 mg/dl). All the patients who were diagnosed through the newborn screening program had normal growth and development after t...

Screening for Phenylketonuria

Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his appr...