Objective To establish the methods for neonatal screening of glucose 6 phosphate dehydrogenase (G6PD) deficiency. Methods G6PD activity was measured by using fluorescence spot test (FST) with the dry blood sample on the filter paper for neonatal screening. G6PD/6PGD rate test of venous blood samples was further performed for confirmation. Results The positive G6PD deficiency rate was 4.2% and its detection rate was 3.7% in FST for neonatal screening. The conformation rate of FST with G6PD/6PGD rate test for G6PD deficiency was 86.8% and 100% particularly in severe deficiency groups. Both sensitivity and specificity were very high in severe deficiency groups. Conclusions FST is used in neonatal screening of G6PD deficiency because of its high accuracy, applicability, and simplicity Morover, it can test lots of dry blood samples on the filter paper. It is very favorable to diagnose and treat G6PD deficiency early in high incidence districts.

OBJECTIVESTo 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.

METHODSUrinary 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) (7.5 mg/kg) were performed in suspected patients with abnormal urinary pterin profiles. Gene mutation analysis was performed for patients with BH4 deficiency and their parents. BH4 deficient patients were treated with BH4 and neurotransmitter precursors after diagnosis. Blood phenylalanine levels, clinical symptoms and mental development were followed up.

RESULTSEleven patients were diagnosed as having BH4 deficiency caused by 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency. The incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese was 10%. Combined loading tests with phenylalanine and oral BH4 were done in 4 of 11 patients and their phenylalanine levels were decreased to normal 4 - 6h after BH4 administration. Four different mutations (P87S, N52S, D96N and G144R) in the PTPS gene were detected in 5 families. Five PTPS-deficient patients were treated with synthetic BH4, neurotransmitter precursors (L-dopa plus carbidopa, and 5-hydroxytryptophan). They had satisfactory physical and mental development after treatment. One patient with partial PTPS deficiency had normal growth and mental development without treatment.

CONCLUSIONSOur results emphasize that screening for BH4 deficiency should be carried out in all patients with hyperphenylalaninemia in order to minimize the misdiagnosis. Patients with BH4 deficiency should be treated early with BH4 and a combination of neurotransmitter precursors.

Biopterin ; administration & dosage ; analogs & derivatives ; deficiency ; urine ; China ; DNA Mutational Analysis ; DNA, Complementary ; chemistry ; genetics ; Follow-Up Studies ; Genetic Testing ; Humans ; Mutation, Missense ; Neopterin ; urine ; Phenylketonurias ; blood ; enzymology ; genetics ; Phosphorus-Oxygen Lyases ; genetics ; metabolism