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Alkaptonuria in an adolescent boy.
Geminiganesan Sangeetha1, Senthil Chandran2, Swathi Ganesan3
1Pediatrics, Sri Ramachandra University Medical College, Chennai, Tamilnadu, India sangeethaperungo@gmail.com.
Alkaptonuria, a rare metabolic disorder, causes black urine in childhood. Early diagnosis and vitamin C treatment in a 13-year-old boy helped manage ochronosis symptoms and prevent complications.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Nephrology
Background:
- Alkaptonuria is a rare inherited metabolic disorder affecting tyrosine metabolism.
- Characterized by homogentisic acid deposition, leading to ochronosis and osteoarthropathy.
- Childhood manifestation is typically limited to blackish urine discoloration.
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