Table of Contents

HK J Paediatr (New Series)
Vol 20. No. 3, 2015

HK J Paediatr (New Series) 2015;20:163-168

Case Report

Genotype of Mild 6-pyruvoyl-tetrahydropterin Synthase Deficiency: Three Case Reports and a Literature Review

F Hong, RL Yang, CG Huang, F Tong


Objectives: To analyse the characteristics of mutation in PTS gene in Chinese patients with mild 6-pyruvoyl-tetrahydropterin synthase deficiency (M-PTSD). Methodology: Clinical and genetic data of three newborns with M-PTSD were collected from the Newborn Screening Center of Zhejiang Province, China. The characteristics of gene mutation in the selected patients were analysed together with local and international literature related to PTS gene and M-PTSD. Results: Nine M-PTSD patients have been reported in China, including three with the IVS1-291A>G/D96N genotype, two with the L93M/ N52S genotype, and one each with the IVS1-291A>G/N52S, IVS1-291A>G/L127F, V56M/R25G, and V56M/T106M genotypes. Four M-PTSD patients have been reported abroad: one each with the genotypes IVS1-322A>T/IVS1-322A>T, L26F/V124L, N47D/D116G, and R16C/C370_383 (K120→stop). Conclusion: Results showed ethnic differences in the M-PTSD related mutations. In the Chinese population, IVS1-291A>G, L93M, and V56M are mild-type mutations, and IVS1-291A>G is the most common benign mutation (27.8%). M-PTSD is not rare among individuals from mainland China, and newborns screened with PTSD should undergo mutation detection as soon as possible in order for physicians to select the appropriate therapeutic regimen and avoid over-treatment.

目的:分析中國輕度6-丙酮醯四氫蝶呤合成酶缺乏症(M-PTSD)患者PTS基因突變特徵。方法:3例來自中國浙江省新生兒篩查中心M-PTSD新生兒臨床和基因資料。將所選患者基因突變特徵連同PTS基因和M-PTSD有關的本地和國際文獻一起分析。結果:中國9例M-PTSD患者被報導,其中,IVS1-291A>G/D96N基因型3例,L93M/N52S基因型2例,IVS1-291A>G/N52S,IVS1-291A>G/L127F,V56M/R25G和V56M/T106M基因型各1例。國外4例M-PTSD患者被報導:IVS1-322A>T/IVS1-322A>T,L26F/V124L,N47D/D116G和 R16C/C370_383(K120→stop)基因型各1例。結論:結果顯示了M-PTSD相關突變的種族差異。在中國人口中,IVS1-291A>G,L93M和V56M為輕型突變,IVS1-291A>G為最常見的良性突變(27.8%)。M-PTSD在中國大陸個體中不罕見,為了醫生選擇合適的治療方案和避免過度治療,篩查出的PTSD新生兒應當儘早接受突變檢測。

Keyword : 6-pyruvoyl-tetrahydropterin synthase deficiency; Medication treatment; Mutation; Tetrahydropterin deficiency



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