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.

References
  • 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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More Diagnosis and Testing Content

Is there newborn testing for Alkaptonuria?

Is there more than one type of test for Alkaptonuria?

Who else in my family should I test for Alkaptonuria?

Does it matter if you test blood vs. saliva vs biopsy for Alkaptonuria?

Is there newborn testing for Alkaptonuria?

Alkaptonuria is not included in newborn screening as of June, 2016. Parents who are known carriers of the condition can request testing from their doctor for a new baby. Genetic testing is available for Alkaptonuria, but it is not required for the diagnosis. A genetic counselor near you can discuss genetic testing with you. Genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • 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. RemoveEdit http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148330/ RemoveEdit 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
Is there more than one type of test for Alkaptonuria?

Tests for Alkaptonuria include:

  • Urine testing to look for high levels of HGA in the urine
  • Blood test to look for changes in the HGD gene
References
  • http://www.ncbi.nlm.nih.gov/books/NBK1454
  • 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. RemoveEdit http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148330/ RemoveEdit 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
Who else in my family should I test for Alkaptonuria?

The following family members should be tested:

  • Siblings of people with Alkaptonuria have a 25% chance of also having Alkaptonuria.
  • The parents of people with Alkaptonuria are carriers of Alkaptonuria (have one gene change).
  • Children of people with Alkaptonuria will be carriers (have one gene change). Rarely will children of people with Alkaptonuria be affected with the condition due to the autosomal recessive inheritance pattern.
  • A genetic counselor near you who can discuss genetic testing and who in the family is at risk. Genetic counselors can be found on the National Society of Genetic Counselors website.
References
  • 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. RemoveEdit http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148330/ RemoveEdit 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/
Does it matter if you test blood vs. saliva vs biopsy for Alkaptonuria?

Diagnostic testing for Alkaptonuria is most accurate using HGA levels in urine. Genetic testing can be performed, and is recommended to start with sequence analysis first, which has a detection rate of 90%. Carrier testing is not accurate using urine analysis. Carrier testing and prenatal diagnosis can only be done using genetic testing. The causative mutations in the affected family member must be identified first for accurate carrier screening and prenatal diagnosis.

References
  • 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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