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Updated: Aug 8, 2026
11:30
Multilevel Oblique Lumbar Interbody Fusion in Degenerative Lumbar Disc Disease with Instability
Published on: July 25, 2025
Ochronosis and lumbar disc herniation
D Gürkanlar1, M Daneyemez, I Solmaz
1Gulhane Military Medical Academy, Ankara, Turkey.
Acta Neurochirurgica
|June 1, 2006
Summary
Alkaptonuria, a rare metabolic disorder, can present with lumbar disc herniation. Retrospective diagnosis occurred after observing black discectomy material, highlighting the need for homogentisic acid testing in spinal degeneration.
Area of Science:
- Biochemistry
- Genetics
- Orthopedics
Background:
- Alkaptonuria is a rare autosomal recessive metabolic disorder caused by absent homogentisic acid oxidase activity.
- It affects approximately 0.001% of the population and leads to ochronosis, a pigmentation of connective tissues.
Observation:
- Lumbar disc herniation is an uncommon presenting feature of alkaptonuria, though the lumbar region is prominently involved.
- A case is presented where a patient with alkaptonuria underwent surgery for lumbar disc herniation.
Findings:
- The patient's discectomy material was notably black, prompting a retrospective diagnosis of alkaptonuria.
- This case illustrates that alkaptonuria is often diagnosed post-operatively upon observing pigmented surgical specimens.
Implications:
- Urinalysis for homogentisic acid is recommended for all patients with degenerative changes of the vertebral column.
- Surgical outcomes for disc herniation in patients with alkaptonuria are reported as successful.
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