Hyperphenylalaninemia (HPA) may be caused by deficiency of phenylalanine hydroxylase or tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a major cause of BH4 deficient HPA. In this study, seven singl
โฆ LIBER โฆ
Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency
โ Scribed by Tze-Tze Liu; Kwang-Jen Hsiao
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 47 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Mutation analysis of the 6-pyruvoyl-tetr
โ
Tze-Tze Liu; Kwang-Jen Hsiao; Sheng-Feng Lu; Sheu-Jen Wu; Kuei-Fen Wu; Szu-Hui C
๐
Article
๐
1998
๐
John Wiley and Sons
๐
English
โ 214 KB
๐ 1 views
Identification of three novel 6-pyruvoyl
โ
Tze-Tze Liu; Yu-Hsin Chang; Szu-Hui Chiang; Yan-Ling Yang; Wei-Min Yu; Kwang-Jen
๐
Article
๐
2001
๐
John Wiley and Sons
๐
English
โ 228 KB
The enzyme 6-Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is the major cause of BH 4 -deficient HPA. The frequency of BH 4 -deficient HPA was estimated to be around 30% among Chinese HPA population in Taiwan, which is much higher than that in Caucasian population (1.5-2% of HPA). Approximatel