Alkaptonuria Follow-up

  • Author: Karl S Roth, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 19, 2011
 

Further Inpatient Care

  • If treatment for alkaptonuria is successful, the patient does not need to be admitted.
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Further Outpatient Care

  • Carefully monitor diet with periodic measurement of plasma amino acid levels to avoid phenylalanine deficiency.
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Inpatient & Outpatient Medications

  • Medications are not needed, although large doses of supplemental vitamin C may be beneficial.
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Transfer

  • Transfer is not required if appropriate outpatient consultation and follow-up are obtained.
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Deterrence/Prevention

  • High-protein diets should be avoided.
  • No exercise restriction is necessary in the absence of cardiovascular disease.
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Complications

  • Calcification of the ear cartilage
  • Calcified lumbar discs
  • Severe arthritis
  • Ankylosis
  • Aortic or mitral valvulitis
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Prognosis

  • Life expectancy is normal.
  • Risk of myocardial infarction later in life is increased.
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Patient Education

  • Family members should be referred for genetic counseling.
  • The need for rigorous follow-up with a biochemical geneticist should be emphasized.
  • For excellent patient education resources, visit eMedicine's Arthritis Center.
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Contributor Information and Disclosures
Author

Karl S Roth, MD  Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

James Bowman, MD  Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Leonard G Feld, MD, PhD, MMM, FAAP  Sara H Bissell and Howard C Bissell Endowed Chair in Pediatrics, Chief Medical Officer, Levine Children's Hospital, Carolinas Medical Center

Leonard G Feld, MD, PhD, MMM, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physician Executives, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Juvenile Diabetes Foundation International

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article]. Yale J Biol Med. Jul-Aug 2002;75(4):221-31. [Medline].

  2. Oexie K, Engel K, Tinschert S, et al. Three-generational alkaptonuria in a non-consanguineous family. J Inherit Metab Dis. Dec/2008;Epub:Epub.

  3. US Preventive Services Task Force. Screening for phenylketonuria (PKU): US Preventive Services Task Force Reaffirmation recommendation. Ann Fam Med. Mar-Apr 2008;6(2):166. [Medline].

  4. Peker E, Yonden Z, Sogut S. From darkening urine to early diagnosis of alkaptonuria. Indian J Dermatol Venereol Leprol. Nov-Dec 2008;74(6):700. [Medline].

  5. de Haas V, Carbasius Weber EC, de Klerk JB, et al. The success of dietary protein restriction in alkaptonuria patients is age-dependent. J Inherit Metab Dis. Dec 1998;21(8):791-8. [Medline].

  6. Ffolkes LV, Brull D, Krywawych S, Hayward M, Hughes SE. Aortic stenosis in cardiovascular ochronosis. J Clin Pathol. Jan 2007;60(1):92-3. [Medline].

  7. Fisher AA, Davis MW. Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. Clin Med Res. Nov 2004;2(4):209-15. [Medline].

  8. Keller JM, Macaulay W, Nercessian OA, Jaffe IA. New developments in ochronosis: review of the literature. Rheumatol Int. Mar 2005;25(2):81-5. [Medline].

  9. Levine HD, Parisi AF, Holdsworth DE, Cohn LH. Aortic valve replacement for ochronosis of the aortic valve. Chest. Oct 1978;74(4):466-7. [Medline].

  10. Lorenzini S, Mannoni A, Selvi E. Alkaptonuria. N Engl J Med. Apr 3 2003;348(14):1408; author reply 1408. [Medline].

  11. Mayatepek E, Kallas K, Anninos A, Muller E. Effects of ascorbic acid and low-protein diet in alkaptonuria. Eur J Pediatr. Oct 1998;157(10):867-8. [Medline].

  12. O'Brien W, La Du BN, Bunim JJ. Biochemical, pathological and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of the world literature (1584-1962). Am J Med. 1963;34:813-38.

  13. Perry MB, Suwannarat P, Furst GP, Gahl WA, Gerber LH. Musculoskeletal findings and disability in alkaptonuria. J Rheumatol. Nov 2006;33(11):2280-5. [Medline].

  14. Phornphutkul C, Introne WJ, Perry MB, et al. Natural history of alkaptonuria. N Engl J Med. Dec 26 2002;347(26):2111-21. [Medline].

  15. Suwannarat P, O'Brien K, Perry MB, et al. Use of nitisinone in patients with alkaptonuria. Metabolism. Jun 2005;54(6):719-28. [Medline].

  16. Vavuranakis M, Triantafillidi H, Stefanadis C, Toutouzas P. Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome. Cardiology. 1998;90(4):302-4. [Medline].

  17. Watts RW, Watts RA. Alkaptonuria: a 60-yr follow-up. Rheumatology (Oxford). Feb 2007;46(2):358-9. [Medline].

  18. Wolff JA, Barshop B, Nyhan WL, et al. Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res. Aug 1989;26(2):140-4. [Medline].

 
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Upon microscopic examination, amber-colored, oval-shaped structures are detected in the mid-to-upper dermal tissues (hematoxylin and eosin, original magnification X40).
 
 
 
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