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Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia

World Journal of Pediatrics 2019年第1期15卷 66-71页

作者： Pei-Zhong Bao Jun Ye Lian-Shu Han Wen-Juan Qiu Hui-Wen Zhang Yong-Guo Yu Jian-Guo Wang Xue-Fan Gu Department of Endocrinology and Genetics Shanghai Institute of PediatricsXinhua HospitalShanghai Jiaotong University School of Medicine1665 Kong Jiang RoadShanghai 200092China

Background This study aimed to explore the value of applying a new pterin marker (isoxanthopterin) to the traditional urine pterin analysis to reduce the rate of mis-diagnosis of 6-pyruvoyltetrahydropterin synthase deficiency (PTPSD) and improve the accuracy of *** We compared the urine neopterin (N),biopterin (B),isoxanthopterin (Iso),B% and Iso% levels between patients with phenylalanine hydroxylase deficiency and those with PTPSD,and found the most specific pterin biomarkers by ROC analysis.A positive cut-off value of urine pterins was *** effect of combined Iso% + B + B% in reducing PTPSD mis-diagnosis was evaluated,and the different urine pterin levels in PTPSD and false PTPSD (FPTPSD) were *** concordance of PTPSD diagnosis by the new pterin scheme and gene mutation analysis was *** (1) Urinary B,B%,Iso and Iso% were significantly lower in PTPSD than those in phenylalanine hydroxylase-deficiency group (P hyperphenylalaninemias and improve the accuracy of *** approach is worthy of further development and increased utilization.

关键词： 6-Pyruvoyltetrahydropterin synthase hyperphenylalaninemia Isoxanthopterin Phenylalanine hydroxylase Pterin

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Phenylketonuria in Hong Kong Chinese： a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China

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Chinese Medical Journal 2011年第16期000卷 2556-2558页

作者： Chloe Miu Mak Chun-hung Ko Ching-wan Lam Wai-ling Lau Wai-kwan Siu Sammy Pak-lam Chen Chun-yiu Law Chi-kong Lai Chak-man Yu Albert Yan-wo Chan Kowloon West Cluster Laboratory Genetic Service ChemicalPathology Laboratory Department of Pathology Princess MargaretHospital Hong Kong China Department of Paediatrics and Adolescent Medicine CaritasMedical Centre Hong Kong China Department of Pathology Li Ka Shing Faculty of Medicine TheUniversity of Hong Kong Hong Kong China

hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15 000 live births. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among Hong Kong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe 6-pyruvoyl-tetrahydropterin synthase （PTPS） deficiency. The patient presented with infantile hypotonia and was misdiagnosed as cerebral palsy. She had very mild hyperphenylalaninemia （95 IJmol/L）, significantly high phenylalnine-to-tyrosine ratio （3.1）, and ele~,ated prolactin of 1109 m lU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1： c.259C〉T; NP_000308.1： p.P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia due to PTPS deficiency was reported to be 1 in 29 542 live births, not a single case of phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.

关键词： Hong Kong Chinese hyperphenylalaninemia newborn screening phenylketonuria 6-pyruvoyl-tetrahydropterin synthase deficiency

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TWENTY-ONE PKU OUT OF 358767 NEWBORNS——THE INCIDENCE OF PKU IN SHANGHAI,CHINA

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Medical Bulletin of Shanghai Jiaotong University 1990年第2期13卷 24-25页

作者：陈瑞冠潘星时钱大龙郭华 Shanghai Institute for Pediatric Research SSMU Shanghai

A study on incidence of phenylketonuria (PKU) by neonatal screening was done in Shanghai. Twenty-one cases of PKU out of 358767 newborns screened during 7 years were comfirmed with the incidence of about 1/17000. This... 详细信息

关键词： phenylketonuria persistent hyperphenylalaninemia

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