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Updated: Feb 16, 2026

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Alkaptonuria-Associated Changes in Disc Degeneration: A Case Report.

Helen E Gruber1, Edward N Hanley

  • 1Orthopaedic Biology Research Laboratory, Cannon Research Building, Room 304, Carolinas Medical Center, PO Box 32861, Charlotte, NC 28232.

JBJS Case Connector
|December 19, 2017
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Summary

Alkaptonuria, a rare genetic disorder, significantly damages spinal discs, leading to severe degeneration and herniation. This case highlights the critical impact of ochronotic pigment deposits on disc pathology.

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Area of Science:

  • Biochemistry
  • Genetics
  • Orthopedics
  • Pathology

Background:

  • Alkaptonuria (AKU) is a rare inherited metabolic disorder characterized by the deficiency of homogentisate 1,2-dioxygenase.
  • This deficiency leads to the accumulation of homogentisic acid, which polymerizes and deposits as ochronotic pigment in various tissues, including cartilage and intervertebral discs.

Purpose of the Study:

  • To describe a case of a patient with alkaptonuria presenting with severe low back pain and disc pathology.
  • To investigate the pathological changes in intervertebral disc tissue associated with alkaptonuria.

Main Methods:

  • A case report of a 39-year-old male patient with diagnosed alkaptonuria.
  • Clinical presentation included low back pain, with imaging revealing lumbar scoliosis and severe disc degeneration (Thompson Grade-V).
  • Minimally invasive surgery for a herniated L2-L3 disc was performed, and the harvested disc tissue was analyzed for pathological changes.

Main Results:

  • Imaging confirmed significant spinal abnormalities, including lumbar scoliosis and extensive vertebral end-plate irregularities.
  • The patient developed a herniated intervertebral disc (L2-L3) six months after initial presentation.
  • Histopathological examination of the surgically removed disc tissue revealed marked extracellular matrix alterations and ochronotic pigment deposits.

Conclusions:

  • Alkaptonuria can lead to severe and premature degeneration of intervertebral discs.
  • Ochronotic pigment deposition and associated matrix changes contribute significantly to disc cell pathology in alkaptonuria.
  • While literature on disc changes in AKU is limited, this case underscores the profound impact of the disorder on spinal health.