ReviewMedicine2025
Alkaptonuria presenting as lumbar degenerative disease: A case report and literature review.
Review in Medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review.Molecular genetics and metabolism reports · 2025Article
- Early-Onset Degenerative Bone Changes as a Manifestation of Alkaptonuria: A Case Report.Cureus · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
Abstract
rationaleAlkaptonuria (AKU) is a rare, inherited metabolic disease caused by deficient activity of homogentisic acid oxidase, leading to the accumulation of homogentisic acid and its oxidized product, benzoquinone acetic acid. These compounds cause black discoloration of cartilage, degeneration, inflammation, and calcification of intervertebral disks and large joints, resulting in pain and impaired quality of life. Despite its debilitating effects, there are no curative treatments for AKU, and management remains supportive. This study aims to contribute to the limited literature on AKU-related spinal manifestations by reporting a case of lumbar degenerative disease in an AKU patient and highlighting surgical intervention as an effective treatment approach. PATIENT CONCERNS: A 49-year-old woman presented with chronic lower back pain and the posterior side of right lower limb radiating pain for 1 year, worsening over the past week. Magnetic resonance imaging revealed lumbar spondylolisthesis at the L4/5 level and migrated lumbar disk herniation at the L5/S1 level.
interventionsThe patient underwent transforaminal lumbar interbody fusion surgery at L4/5 and L5/S1. Intraoperatively, the resected disk material was black, with darkened intervertebral disks and cartilage endplates, distinct from the typical white appearance of degenerative disks. Surgical intervention included disk and cartilage endplate removal, insertion of cages with harvested autografts, and implantation of bilateral pedicle screws and rods. DIAGNOSIS: AKU with lumbar degenerative disease. OUTCOME: The patient experienced resolution of pain postoperatively. LESSONS: This case underscores the importance of recognizing AKU as a potential cause of lumbar degenerative disease and highlights transforaminal lumbar interbody fusion surgery as a viable treatment option for pain relief and improved functionality in affected individuals.
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