Alkaptonuria, a Rare Genetic Disorder and its Molecular Basis

Authors

  • 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

Keywords:

Alkaptonuria, Homogentisic Acid, Phenylalanine, Tyrosine, Connective Tissue

Abstract

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.

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International Journal of Scientific Research in Science and Technology

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Published

2017-10-31

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Volume 3, Issue 7, September-October-2017

Section

Research Articles

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How to Cite

[1]
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), Online ISSN : 2395-602X, Print ISSN : 2395-6011, Volume 3, Issue 7, pp.253-258, September-October-2017.