Alkaptonuria : Symptoms, Diagnosis & Tests (AKU, Alcaptonuria, Homogentisic acid oxidase deficiency, Alcaptonuric ochronosis)

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You are here : AllRefer.com > Health > Diseases & Conditions > Alkaptonuria : Symptoms, Diagnosis & Tests

Alkaptonuria

Alternate Names : AKU, Alcaptonuria, Homogentisic acid oxidase deficiency, Alcaptonuric ochronosis

Symptoms & Signs

Urine in an infant's diaper may darken and can turn almost black after several hours. However, many persons with this condition may not know they have it until mid-adulthood (around age 40), when joint and other problems occur.

Symptoms may include:

Arthritis (especially of the spine) that gets worse over time
Darkening of the ear
Dark spots on the white of the eye (sclera) and cornea

Diagnosis & Tests

A urine test (urinalysis) is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine a black color in patients with this condition.

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Alkaptonuria : Definition
Alkaptonuria : Overview, Causes, & Risk Factors
Alkaptonuria : Symptoms & Signs
Alkaptonuria : Diagnosis & Tests
Alkaptonuria : Treatment
Alkaptonuria : Prognosis (Expectations)
Alkaptonuria : Complications
Alkaptonuria : Calling Your Health Care Provider
Alkaptonuria : Prevention
Alkaptonuria : References

Review Date : 4/15/2009
Reviewed By : Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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