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 "early detection" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

classical phenylketonuria

congenital diaphragmatic hernia

cowden syndrome

cystinuria

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal squamous cell carcinoma

fabry disease

homocystinuria without methylmalonic aciduria

inclusion body myositis

kallmann syndrome

krabbe disease

oral submucous fibrosis

papillon-lefÃ¨vre syndrome

phenylketonuria

pyomyositis

von hippel-lindau disease

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