Alkaptonuria, a Rare Genetic Disorder and its Molecular Basis

Authors(3) :-Sikander Ali, Narmeen Mehboob Khan, Rimsha Khan

Alkaptonuria (AKU) involves a one of a noticeable place in the historical background of human hereditary qualities since it was the principal infection to be translated as a Mendelian latent attribute by Garrod in 1902. Alkaptonuria is an uncommon metabolic issue coming about because of loss of homogentisate 1, 2 dioxygenase (HGO) movement. Mutations become the cause of this leads which may be due to loss-of-function mutation and missense mutation. Influenced people gather expansive amounts of homogentisic corrosive, a mediator result of the catabolism of tyrosine and phenylalanine, which obscures the urine and stores in connective tissues bringing on an incapacitating joint inflammation. Dietary confinement of tyrosine and phenylalanine lead to a decrease in the generation of HGA, however, a serious limitation of the mentioned amino acids is harmful in the long run and might be perilous.

Authors and Affiliations

Sikander Ali
Institute of Industrial Biotechnology, Government College University, Lahore, Pakistan
Narmeen Mehboob Khan
Institute of Industrial Biotechnology, Government College University, Lahore, Pakistan
Rimsha Khan
Institute of Industrial Biotechnology, Government College University, Lahore, Pakistan

Alkaptonuria, Homogentisic Acid, Phenylalanine, Tyrosine, Connective Tissue

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Publication Details

Published in : Volume 3 | Issue 7 | September-October 2017
Date of Publication : 2017-10-31
License:  This work is licensed under a Creative Commons Attribution 4.0 International License.
Page(s) : 253-258
Manuscript Number : IJSRST1734126
Publisher : Technoscience Academy

Print ISSN : 2395-6011, Online ISSN : 2395-602X

Cite This Article :

Sikander Ali, Narmeen Mehboob Khan, Rimsha Khan, " Alkaptonuria, a Rare Genetic Disorder and its Molecular Basis, International Journal of Scientific Research in Science and Technology(IJSRST), Print ISSN : 2395-6011, Online ISSN : 2395-602X, Volume 3, Issue 7, pp.253-258, September-October-2017. Available at doi : 10.32628/IJSRST1734126
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