MY GENETIC DISORDER IS ALKAPTONURIA

THE WORD Alkaptonuria COMES FROM THE WORD alkapton MEANING

SYMPTOMS

• Black coloration in the urine
• Dark spots in the whites of the eyes
• Darkening of the ears
• Arthritis (especially) in the spine

Alkaptonuria is caused by deficiency of homogentisate an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid

The gene is located on the third chromosome and it's chromosome number is 3q13.33

ALKAPTONURIA IS A MISSENSE MUTATION, AND IT IS A RECESSIVE AUTOSOMAL TRAIT.

Daily life
Life is pretty much the same for patients except when they get to their 30s and 40s when they start to develop arthritis.

WORK CITED

• Introne, Wendy J. "Genetic Review: Alkaptonuria." Alkaptonuria. U.S. National Library of Medicine, 22 Aug. 2013. Web. 18 Dec. 2013.
• "Alkaptonuria." - Genetics Home Reference. N.p., 16 Dec. 2012. Web. 16 Dec. 2013.
• "Long-Term Study of Nitisinone to Treat Alkaptonuria." Clinicaltrials.gov. NHGRI, 7 Apr. 2005. Web. 18 Dec. 2013.
• "Alkaptonuria | Disease | Overview | Office of Rare Diseases Research (ORDR-NCATS)." Alkaptonuria | Disease | Overview | Office of Rare Diseases Research (ORDR-NCATS). N.p., 8 Jan. 2011. Web. 08 Jan. 2014.