Alkaptonuria

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What is the life expectancy of someone with Alkaptonuria?

People with Alkaptonuria are not expected to have a shorter lifespan than people without Alkaptonuria.

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Is Alkaptonuria progressive?

Do people with Alkaptonuria have to follow a specific diet?

What does protein in my diet have to do with Alkaptonuria?

I have Alkaptonuria, is there someone that can provide me with more information and help me with a low-protein diet?

How much physical activity is too much for someone with Alkaptonuria?

Contact sports and excessive exercise are discouraged for people with Alkaptonuria. Should I limit how much my child plays?

Is there a specific person I can contact about clinical trials for Alkaptonuria?

What does research say about using Nitisinone to treat Alkaptonuria?

What is the status of Nitisinone as a treatment for Alkaptonuria?

What are the risks associated with taking Nitisinone for Alkaptonuria?

My child was diagnosed with Alkaptonuria. Should I talk to their physician about Nitisinone?

What should I do if I do not have access to an Alkaptonuria specialist?

I have heard a lot about Vitamin C and Alkaptonuria. What is the purpose and how useful is it?

Do carriers have symptoms of Alkaptonuria?

How common is Alkaptonuria?

Is there someone that I can talk to in order to understand more about Alkaptonuria?

Is there a way to predict how severely affected someone will be with Alkaptonuria?

Are women and men affected equally by Alkaptonuria?

How many people with Alkaptonuria have joint replacements to treat arthritis?

Is Alkaptonuria progressive?

Alkaptonuria is progressive. Discolored urine is present at birth. The, ochronosis develops around 30 years of age, and arthritis begins around 50 years of age.

References
Do people with Alkaptonuria have to follow a specific diet?

People with Alkaptonuria may follow a low-protein diet to reduce the amount of HGA accumulating in the body. However, there is no medical evidence yet to suggest that a low protein diet alone is enough to treat Alkaptonuria although it may help. Protein does not need to be cut out of the diet completely. There have been no long term studies looking at the effect of a low protein diet on the symptoms of Alkaptonuria.

References
  • Arnoux J, Le Quan Sang K, de Lonlay P, et al. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.Journal Of Inherited Metabolic Disease. September 2015;38(5):791-796.
  • http://www.ncbi.nlm.nih.gov/pubmed/25860819
What does protein in my diet have to do with Alkaptonuria?

The main source for the body's phenylalanine, an amino acid, comes from protein that we eat. The gene responsible for Alkaptonuria is found in the pathway that breaks down phenylalanine. Therefore, the more protein we eat, the more phenylalanine we have. The more phenylalanine we have, the more homogentisic acid we have as the phenylalanine gets broken down in the body.

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/
I have Alkaptonuria, is there someone that can provide me with more information and help me with a low-protein diet?

A licensed dietician can help you with a low protein diet and make sure that you carry it out correctly. Specifically, dieticians that work in metabolic clinics have experience with specialized diets required by other metabolic disorders in addition to Alkaptonuria. Information on metabolic dietitians can be found at the Genetic Metabolic Dieticians International (GMDI) website: http://www.gmdi.org/Resources/Find-a-Metabolic-Dietitian.

References
  • http://www.gmdi.org/Resources/Find-a-Metabolic-Dietitian
How much physical activity is too much for someone with Alkaptonuria?

The prescription for physical activity for patients with Alkaptonuria includes:

  • Light or moderate exercise
  • Avoid excessive or contact sports
  • Best results have been seen with people who stay active, but avoid high impact activities
  • Maintain range of motion through moderate non-weight bearing exercise, such as swimming
References
  • http://www.ncbi.nlm.nih.gov/books/NBK1454/
  • 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/
Contact sports and excessive exercise are discouraged for people with Alkaptonuria. Should I limit how much my child plays?

The more a child plays has not been correlated with a higher severity of disease. Instead, it is recommended, as it is with adults, that high impact activities and contact sports are limited.

Is there a specific person I can contact about clinical trials for Alkaptonuria?

For more information about clinical trials, email Wendy Introne, MD, Staff Clinician at the Office of the Clinical Director, National Human Genome Research Institute located at the National Institutes of Health in Washington, DC at wintrone@nhgri.nih.gov.

What does research say about using Nitisinone to treat Alkaptonuria?

Nitisinone is a drug that was originally approved by the FDA to treat another condition, Tyrosinemia Type I. Tyrosinemia is caused by a deficiency of a different enzyme in the same pathway that causes Alkaptonuria. Research has shown that nitisinone is an effective at preventing the buildup of homogentisic acid in the body. Current research is focused on looking at long term use of nitisinone in people with alkaptonuria and the use of nitisinone in children with alkaptonuria. There is some concern about potential side effects of nitisinone. In studies to date, treated individuals had elevated tyrosine in their blood. Some developed corneal crystals as a result. Theoretically, neurological complications associated with elevated tyrosine could result, but in one three year study, side effects were minimal. There was a positive trend showing slowing of aortic stenosis, but there was no difference in the hip range of motion between the treatment and control groups. Studies are ongoing.

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/
What is the status of Nitisinone as a treatment for Alkaptonuria?

As of May 2019, nitisinone has been approved by the FDA. However, it is not currently licensed for the treatment of Alkaptonuria.

References
  • Arnoux J, Le Quan Sang K, de Lonlay P, et al. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria. Journal Of Inherited Metabolic Disease. September 2015;38(5):791-796.
  • http://www.ncbi.nlm.nih.gov/pubmed/25860819
What are the risks associated with taking Nitisinone for Alkaptonuria?

Nitisinone can increase the amount of tyrosine in a person's body. Increased levels of tyrosine can lead to corneal crystals (deposits of tyrosine into a person's eye). High levels of tyrosine can also cause skin on the palms and feet to become thickened. These side effects can be reversed when tyrosine levels are lowered. Theoretically, neurological issues related to elevated tyrosine can occur, but this has not yet been observed in studies. Research is ongoing.

References
  • Arnoux J, Le Quan Sang K, de Lonlay P, et al. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria. Journal Of Inherited Metabolic Disease. September 2015;38(5):791-796.
  • http://www.ncbi.nlm.nih.gov/pubmed/25860819
  • 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/
My child was diagnosed with Alkaptonuria. Should I talk to their physician about Nitisinone?

Research has not yet determined the long term effects of nitisinone. Nitisinone is known to have a risk on congnitive development. Additionally, children with Alkatoptonuria are not affected by the symptoms that adults are. Because of this, it is not recommended that children be started on nitisinone for the treatment of Alkaptonuria. Instead, nitisinone should be considered for adults.

References
  • Arnoux J, Le Quan Sang K, de Lonlay P, et al. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.Journal Of Inherited Metabolic Disease. September 2015;38(5):791-796.
  • http://www.ncbi.nlm.nih.gov/pubmed/25860819
What should I do if I do not have access to an Alkaptonuria specialist?

Finding a genetic counselor and/or a medical geneticist near you would be an ideal way to make sure you have the information you need to make sure your Alkaptonuria is managed correctly. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

Make sure your primary care physician has the appropriate information on Alkaptonuria in order to ensure that you are receiving the proper medical management.

References
  • www.acmg.net
  • www.nsgc.org
I have heard a lot about Vitamin C and Alkaptonuria. What is the purpose and how useful is it?

It has been suggested that high levels of vitamin C can help prevent ochronic pigment from being deposited in the body. However, there have not been any credible studies published that have shown the usefulness of Vitamin C in the treatment of Alkaptonuria.

References
  • Arnoux J, Le Quan Sang K, de Lonlay P, et al. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria. Journal Of Inherited Metabolic Disease. September 2015;38(5):791-796.
  • http://www.ncbi.nlm.nih.gov/pubmed/25860819
Do carriers have symptoms of Alkaptonuria?

Carriers (people with only one gene change) do not have symptoms or show signs of Alkaptonuria.

How common is Alkaptonuria?

In the United States, 1 in 250,000- 1 in 500,000 individuals have Alkaptonuria.

Is there someone that I can talk to in order to understand more about Alkaptonuria?

A genetic counselor can provide you with more information about Alkaptonuria. Genetic counselors are healthcare professionals that have specialized training in medical genetics and counseling to provide personalized help to patients on their genetic health. Genetic counselors can be found on the National Society of Genetic Counselors website.

Is there a way to predict how severely affected someone will be with Alkaptonuria?

Currently, there is no way to predict the severity of the disorder. Different individuals secrete different amounts of HGA, but there is no information on the reason for this. People with Alkaptonuria are encouraged to limit the stress on their spine and large joints by avoiding excessive and intense exercise to help delay arthritis. It has been shown that people who stay active, but avoid these types of activities have better pain management.

Are women and men affected equally by Alkaptonuria?

Women and men are affected with Alkaptonuria in equal numbers. However, men tend to show signs and symptoms about 5-10 years earlier than women do.

How many people with Alkaptonuria have joint replacements to treat arthritis?

About 50% of people with Alkaptonuria have a joint replacement by the age of 55 to treat arthritis. Joint replacement is an option for anyone who has been diagnosed with Alkaptonuria, and it is primarily considered to reduce pain.

References
  • Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab. 2002;77:136?42.
  • http://www.ncbi.nlm.nih.gov/pubmed/12359141

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