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Alkaptonuria

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Alkaptonuria

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    1. Alkaptonuria Morgan Hancock p. 5 Ms. Banchieri Biology

    2. What Is It? Alkaptonuria is a genetics disorder that causes urine to turn black when its exposed to oxygen. Also, it shows a deep purple color on your finger and brown pigments on the eyeball. A study that was taken in 1977 says that an Egyptian mummy had been affected by Alkaptonuria.

    3. How Is It Inherited? To inherit Alkaptonuria both of your parents must have one HGD gene, or Hepatic homogentisate 1,2-dioxygenase. You too must have a Homozygous Dominant gene.

    4. What Gene And Chromosome Does It Affect? The gene affected when having Alkaptonuria is the HGD gene, or Hepatic homogentisate 1,2-dioxygenase. This makes HGA into maleylacetoacetic. This mistake in metabolism is in a catabolism passageway of the protien called tyrosine. The chromosome that is affected is chromosome 3q2.

    5. Who Gets Alkaptonuria? People with Homozygous Dominant and with parents who both have this disorder. This condition is very rare (1/250,000 to 1/million). It is more common in Slovakia (1/12,000 to 1/19,000). It is most commonly diagnosed to someone in their 30s.

    6. Genetic Testing To test if someone has Alkaptonuria, a the person must take a urine sample and if 20.3 mg of HGA is found, that person is then diagnosed. This test takes up to 24 hours.

    7. Treatments Though there is no cure for Alkaptonuria, there are some treatments. Medical Therapy Downgrading in phenylalanine and tyrosine has reduced the acid amount Vitamin C Less use of nitisinone, a prevention of the enzyme 4- homogentisate dioxygenase

    8. Current Research A hip replacment is believed to cure Alkaptonuria. http://clinicaltrials.gov/ct/show/NCT00107783

    9. Bibliography Government. “Alkaptonuria.” 1996. Feb. 9, 2011 http://medicinenet.com/alkaptonuria/article.htm Gene Review. “Alkaptonuria.” 2003. Feb. 16, 2011 http://nbci.nih.gov/books/NBK1454/ eMedicine. “Alkaptonuria.” 2009. Feb. 19, 2011 http://emedine.medscape.com/artificle/94B130-overveiw Kirmse, Brian. “Alkaptonuria.” 2007. Feb 20, 2011 http://www.medhelp.org/medical-information/show/2792/Alkaptonuria

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