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Alkaptonuria - Frequently Asked Questions

Last Updated on May 11, 2018
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Frequently Asked Questions

1. Which doctor should I consult for alkaptonuria?

If your child is suffering from alkaptonuria, consult a pediatrician. If the patient is an adult, consult a doctor trained in General Medicine.

2. When should I consult a doctor?

You should consult a doctor as soon as you see early symptoms such as black urine.

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3. How common is alkaptonuria?

Alkaptonuria is an extremely rare disease. Generally speaking, only about 1 in 250,000 people get this disease.

4. Which enzyme is defective in alkaptonuria?

The defective enzyme is homogentisate 1,2-dioxygenase.

5. How can I tell if my baby has alkaptonuria?

If your baby produces black colored urine, it is probably due to alkaptonuria and would need further evaluation by a child specialist.

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