Q: Which doctor should I consult for alkaptonuria?
A: If your child is suffering from alkaptonuria, consult a pediatrician. If the patient is an adult, consult a doctor trained in General Medicine.
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Q: When should I consult a doctor?
A: You should consult a doctor as soon as you see early symptoms such as black urine.
Q: How common is alkaptonuria?
A: Alkaptonuria is an extremely rare disease. Generally speaking, only about 1 in 250,000 people get this disease.
Q: Which enzyme is defective in alkaptonuria?
A: The defective enzyme is homogentisate 1,2-dioxygenase.
Q: How can I tell if my baby has alkaptonuria?
A: If your baby produces black colored urine, it is probably due to alkaptonuria and would need further evaluation by a child specialist.
