Alkaptonuria Diagnosis Following a Discectomy: A Case Report
Fahad Alhelal1, Sami Alissa1, Majed Abaalkhail1
1Department of Medicine, National Guard Health Affairs, King Abdulaziz Medical City, Riyadh, SAU.
Cureus
|November 8, 2023
Summary
Alkaptonuria, a rare genetic disorder, involves homogentisic acid buildup. Early detection and comprehensive management are crucial for improving patient outcomes in this complex condition.
Area of Science:
- Medical Genetics
- Biochemistry
- Rare Diseases
Background:
- Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
- Characterized by deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD).
- Leads to accumulation of homogentisic acid (HGA), causing ochronosis and degenerative arthropathy.
Observation:
- A 33-year-old male presented with severe acute back pain radiating to the left leg.
- No prior medical or surgical history was reported.
- Genetic testing revealed a homozygous pathogenic variant consistent with Alkaptonuria.
Findings:
- This case underscores diagnostic challenges associated with Alkaptonuria.
- Highlights the importance of early detection and thorough clinical evaluation.
- Confirms the genetic basis of Alkaptonuria in affected individuals.
Implications:
- Emphasizes Alkaptonuria as a multidimensional disease requiring further research.
- Suggests the need for enhanced understanding to develop effective management strategies.
- This case provides a foundation for future clinical trials and studies on Alkaptonuria.
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