Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations

被引:26
作者
Chien, YH
Chiang, SC
Huang, A
Lin, JM
Chiu, YN
Chou, SP
Chu, SY
Wang, TR
Hwu, WL
机构
[1] Natl Taiwan Univ Hosp, Dept Med Genet, Taipei 100, Taiwan
[2] Natl Taiwan Univ Hosp, Dept Pediat, Taipei 100, Taiwan
[3] Natl Taiwan Univ Hosp, Dept Nutr, Taipei 100, Taiwan
[4] Natl Taiwan Univ Hosp, Dept Psychiat, Taipei 100, Taiwan
[5] Natl Taiwan Univ, Coll Med, Dept Gen Med, Taipei 10018, Taiwan
关键词
D O I
10.1023/A:1013984022994
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Ten cases of tetrahydrobiopterin (BH4) deficiency were identified in 1,337,490 newborns screened in a Chinese population in Taiwan. The high incidence of BH4 deficiency in the Taiwanese population may be explained by a founder effect, since all of the patients revealed 6-pyruvoyltetrahydropterin synthase gene mutations, and grouping N52S and P87S mutations together constituted 88.9% of the disease alleles. BH4 supplementation with restriction of high-protein foods gave control of plasma phenylalanine within normal range, and levadopa itself prevented seizure. However, the average intelligence quotient (IQ) score of these patients was only 76 +/- 14 (56-98). Statistically, the age of starting medication, including 5-hydroxytrytophan (5-HTP), was inversely correlated to IQ scores of these patients. We suggest the combination of BH4, levodopa and 5-HTP as the standard protocol to commence the treatment of BH4 deficiency as early as possible, although prenatal brain damage could have existed.
引用
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页码:815 / 823
页数:9
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