Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency

N. Vatanavicharn*, C. Kuptanon, S. Liammongkolkul, T. T. Liu, K. J. Hsiao, P. Ratanarak, N. Blau, P. Wasant

*此作品的通信作者

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14 引文 斯高帕斯(Scopus)

摘要

Tetrahydrobiopterin (BH4) deficiency comprises heterogeneous disorders resulting in hyperphenylalaninaemia (HPA) and lack of monoamine neurotransmitters. Among these, 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is the most common disorder. We report a female Thai patient with PTPS deficiency who was initially detected by newborn screening for HPA, and later treated by supplements of BH4, L-dopa/carbidopa, and 5-hydroxytryptophan. Monitoring of serum prolactin representing dopamine sufficiency is used for optimizing the dosage of L-dopa. She showed a remarkable progress of development despite delayed treatment at 5 months of age. Mutation analysis revealed two heterozygous missense mutations of the PTS gene: c.259C>T (p. P87S) inherited from the father; and c.147T>G (p. H49Q) inherited from the mother. The latter is a novel mutation that affects the pterin-binding site of the PTPS enzyme. This novel mutation expands the mutation spectrum of PTPS deficiency. Notably, some PTS mutations have been reported in both Thai and Chinese patients. Whether these common mutations are the result of a founder effect with common ancestors of Thai and Chinese people or intermarriage between Thai and Chinese descents in Thailand remain unclear. In conclusion, severe neurological impairment from BH4 deficiency could be prevented by newborn screening for HPA and proper metabolic management. However, pterin analysis for early diagnosis of BH4deficiency is still not available in most developing countries.

原文English
頁(從 - 到)S279-S282
期刊Journal of Inherited Metabolic Disease
32
發行號SUPPL. 1
DOIs
出版狀態Published - 12月 2009

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