Creator: Dr. Kaushik Bharati
Keywords: alkaptonuria, alkaptonuria faq, frequently asked questions for alkaptonuria

Written by Dr. Kaushik Bharati, MSc, PhD, FRSPH (London)

Medically Reviewed by Dr. Lakshmi Venkataraman, MD

Last Updated on May 11, 2018

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.

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.

Published on May 07, 2018
Last Updated on May 11, 2018