Understanding Alkaptonuria and its Long-Term Effects: Expert Insights
Learn about the rare genetic disorder Alkaptonuria, its causes, early signs, long-term effects, diagnosis, and treatment options.
Overview
Alkaptonuria is a rare genetic disorder caused by a deficiency of the enzyme homogentisate 1,2-dioxygenase. Dr. Abhishek Agrawal, a consultant urologist, explains why it turns urine black due to the accumulation of homogentisic acid in the body.
Early Signs and Symptoms
The black discoloration of urine is often the earliest sign of the disease, typically appearing in infancy or early childhood. However, some individuals may not experience symptoms until later in life.
Long-Term Effects
Alkaptonuria can lead to degenerative joint disease, where homogentisic acid deposits in the cartilage, causing joint damage and chronic pain.
Diagnosis and Treatment
While there is no cure for Alkaptonuria, early diagnosis and symptom management can improve patient outcomes. Treatment focuses on relieving pain, preserving joint function, and monitoring complications.
Note to readers: This article is for informational purposes only and should not replace professional medical advice. Always consult your doctor for any medical concerns.