Alkaptonuria

Diagnosis and Testing

How do I get tested for Alkaptonuria?

Alkaptonuria is diagnosed based on the detection of a significant amount of HGA in a 24 hour sample of urine. Normal HGA levels in a 24 hour sample is 20-30 mg. Individuals with Alkaptonuria excrete between 1-8 grams of HGA in their urine in one day. Genetic testing is available to look for changes in the HGD gene, but it is not required for diagnosis. Genetic counselors can be found on the National Society of Genetic Counselors website.

Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA. A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Mol Genet Metab. 2011;103:307?14.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148330/

Introne WJ, Gahl WA. Alkaptonuria. 2003 May 9 [Updated 2016 May 12]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1454/

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