A survey for the incidence of phenylketonuria in Guangdong, China.

A multicenter cooperative investigated the incidence of Phenylketonuria (PKU) in the central, southern and western areas of Guangdong province and its surrounding districts. Tests to measure phenylalanine (Phe) on dried blood spots on filter paper cards used BIA and thefluorescence assay. Four hundred sixty-one thousand eight hundred five (461,805) newborns were screened and 14 cases of persistent hyperphenylalaninemia (PHPA) were detected.

Using the fluorescence spot test for neonatal screening of G6PD deficiency.

To establish the neonatal screening method of glucose-6 phosphate dehydrogenase (G6PD) deficiency, G6PD activity was measured using the fluorescence spot test (FST) using dried blood samples on filter paper. The G6PD/6PGD rate test of venous blood samples was further performed for confirmation. The positive G6PD deficiency rate was 4.

Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.

Objectives: To assess the incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobiopterin deficient patients.

Methods: Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. Further combined loading tests with phenylalanine (Phe) (100 mg/kg) and tetrahydrobiopterin (BH4) (7.