Current situation and prospects of newborn screening and treatment for Phenylketonuria in China - compared with the current situation in the United States, UK and Japan.

[phenylketonuria]

Phenylketonuria (PKU ) is a treat-able and prevent-able inborn error of metabolism which leads to severe mental retardation and neurobehavioral abnormalities . A screening program , especially for early detection , combined with a Phe-restricted therapeutic diet can help to control the process of PKU of most patients . The China government has put more emphasis on newborn screening and treatment against PKU , yet by comparing the situation of newborn screening and treatment against PKU in China and the relatively developed countries - United States , United Kingdom and Japan , the newborn screening and treatment against PKU in China is relatively weak and many deficiencies are found . More studies concerning multi-stage target blood Phe concentration criteria , a policy that requires newborn screening has to be taken , better financial support for newborn screening , publicity for newborn screening , and national guidelines for treatment of PKU may be prospects in China and may provide some support for better development of newborn screening and treatment against PKU in China .

Diseases
Validation

Diseases presenting "severe mental retardation" symptom

canavan disease

classical phenylketonuria

cohen syndrome

congenital toxoplasmosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

monosomy 21

neonatal adrenoleukodystrophy

phenylketonuria

wolf-hirschhorn syndrome

This symptom has already been validated