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.
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.