PHENYLKETONURIA - YESTERDAY, TODAY.....TOMORROW

Authors

  • DR.K.RAMADEVI M.D Professor of Biochemistry Madras Medical College, Chennai -600003

Keywords:

phenylketonuria, hyperphenylalanininemias ,PAH, enzyme replacement, gene therapy.

Abstract

Phenylketonuria is a genetic disorder   wherein there is an inability to convert phenylalanine to tyrosine leading to toxic elevations of this aminoacid in the blood that ultimately causes mental retardation. This disease occurs at a frequency of 1 in 10,000 births. Early detection and appropriate therapy can prevent permanent brain damage.   The historical aspects related to disease and the newer options for diagnosis and treatment are herewith presented.

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Published

30.06.2013

How to Cite

DR.K.RAMADEVI M.D. (2013). PHENYLKETONURIA - YESTERDAY, TODAY.TOMORROW. International Journal of Pharma and Bio Sciences, 4(2), 1185–1189. Retrieved from https://ijpbs.net/index.php/journal/article/view/2409

Issue

Volume 4, Issue 2, 2013

Section

Review Articles

Categories

License

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.