페닐케톤뇨증이란

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"페닐케톤뇨증이란"에 대한 내용입니다.

목차

1.Phenylketonuria(PKU)
2.Phenylalanine hydroxylase
3.PKU의 원인
4.PKU의 증상
5.PKU의 치료
6.Conclusion
7.Reference

본문내용

Phenylalanine hydroxylase(PAH)

Sequence: 452 a.a (one subunit)
Structure:
- tetramer로 구성.
- 각 monomer는 3개의 domain으로 구성
- mass of one subunit : about 50 kDa (50~53)
- Active site에 ferrous iron 포함 ferrous iron 포함

참고 자료

W.B.Hanley,MD, Adult Phenylketonuria.The American Jounal of Medicine, volume117 p.590-p.595
Robert Surtees, The neurochemistry of phenylketonuria. Nenad Blau, Eur J Pediatr(2000) 159[Suppl2]: S109-S113
Woomi Kim, Heidi Erlandscen, Sankar Surendran, Raymond C. Stevens, Alejadra Gamez, Kimberlee Michols-Matalon, Stephen K.Tyring, and Reuben Matalon,. Trends in Enzyme Theraphy for Phenylketonuria. Molecular Therapy Vol.10,No2, p.220-p.224
Heidi Erlandsen and Raymond C. Stevens. The Structural Basis of Phenylketonuria. Molecular Genetics and Metabolism 68(1999), p.103-p.125
Francjan J Spronsen, Margreet van Rijn, Jolita Bekhof, Richard Koch, and GA Smit. Phenylketonuria:tyrosine supplementation in phenylalanine-restricted diets. Am J Clin Nutr 2001;73:p.153-p.157
Dong Hwan Lee, Soo Kyung Koo, Kwang-Soo Lee, Young-Joo Yeon, Hyun-Jeong Oh, Sang-Wun Kim, Sook-Jin Lee, Sung-Soo Kim, Jong-Eun Lee, In-ho Jo and Sung-Chul Jung. The molecular basis of phenylketonuria in Koreans. Journal of Human Genetics(2004).
Stephen G.Kahler and Michael C.Fahey. Metabolic Disorders and Mental Retardation. American Journal of Medical Genetics PartC. 117C:31-41(2003)
Christopher K.Mathews, K.E. van Holde, and Kevin G.Ahern. BIOCHEMISTRY(3rd). p.767-p.770. Addison Wesley Longman.
David L.Nelson and Michael M.Cox. Lehninger Principle of Biochemistry(3rd). p. 646-p.648. Worth Publishers