Acta Scientific Medical Sciences (ASMS)(ISSN: 2582-0931)

Review Article Volume 5 Issue 9

Phenylketonuria: Disease Characteristics, Symptoms and Cause of Disease

Yoheenee Jugdoyal*

BSc Biotechnology, City of Johannesburg, Gauteng, South Africa

*Corresponding Author: Yoheenee Jugdoyal, BSc Biotechnology, City of Johannesburg, Gauteng, South Africa.

Received: June 26, 2021; Published: August 21, 2021

Abstract

  Phenylketonuria is a genetic defect which causes the accumulation of phenylalanine in the body. This metabolic disorder can be detected from birth and is rare. Phenylalanine is one of twenty essential amino acids which the human body needs in order to function properly and grow (Scriver, 2007). This amino acid makes up proteins in the body, which without; the body will not function normally. However, the accumulation of this amino acid can be detrimental to the health.

Keywords: Phenylketonuria; Phenylalanine; Health

References

  1. Anton M and Graham FL. “Journal on Phenylketonuria and understanding the metabolic disease”. 69 (2002): 4600-4606. 
  2. Scriver CR. “The PAH gene, phenylketonuria, and a paradigm shift”. Human Mutation 28.9 (2007): 89-125.
  3. Bronson SK., et al. “Single-copy transgenic mice with chosen-site integration”. Proceedings of the National Academy of Sciences of the United States of America 93 (2006): 9067-9072. 
  4. Askew GR., et al. “Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy”. Molecular and Cellular Biology 13 (2012): 41115-4124. 
  5. Bradley A., et al. “Formation of germ-line chimaeras from embryo-derived teratocarcinoma cell lines”. Nature 309 (2010): 255-256.
  6. Capecchi MR. “The new mouse genetics: altering the genome by gene targeting”. Trends in Genetics 5 (2001): 70-76. 
  7. Cheah SS and Behringer RR. “Contemporary gene targeting strategies for the novice”. Molecular Biotechnology 19 (2005): 297-304. 
  8. Capecchi MR. “Targeted Gene Replacement”. Scientific American 270 (2003): 52-59. 
  9. DeChiara TM. “Gene targeting in ES cells”. Methods in Molecular Biology 158 (2016): 19-45.
  10. Capecchi MR. “Gene targeting in mice: functional analysis of the mammalian genome for the twenty-first century”. Nature Review 6 (2005): 507-512. 
  11. Cohen-Tannoudji M and Babinet C. “Beyond ‘knock-out’ mice: new perspectives for the programmed modification of the mammalian genome”. Molecular Human Reproduction4 (2013): 929-938. 
  12. Deng C and Capecchi MR. “Reexamination of gene targeting frequency as a function of the extent of homology between the targeting vector and the target locus”. Molecular and Cellular Biology 12 (2008): 3365-3371.
  13. Strachan T and Read AP. “Human molecular genetics”.Newyork: Wiley-Liss (2014).
  14. Gloves DJ and Lipps HJ. “Towards safe non viral therapeutic gene expression in humans”. Nature Reviews Genetics 6 (2005): 299-310. 
  15. Somia N and Verma IM. “Gene therapy: Trials and Tribulations”. Nature Reviews Genetics 2 (2000): 91-99.

Citation

Citation: Yoheenee Jugdoyal. “Phenylketonuria: Disease Characteristics, Symptoms and Cause of Disease”.Acta Scientific Medical Sciences 5.9 (2021): 119-122.

Copyright

Copyright: © 2021 Yoheenee Jugdoyal. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.




Metrics

Acceptance rate30%
Acceptance to publication20-30 days
Impact Factor1.403

Indexed In





Contact US