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http://dx.doi.org/10.1016/j.jbspin.2020.02.006 | DOI Listing |
Acta Ortop Mex
January 2025
Universidad Anáhuac Querétaro, México.
Introduction: alkaptonuria is a rare hereditary metabolic disorder which is characterized by deficiency of the enzyme homogentisate 1,2 dioxygenase, which is responsible for the oxidation and renal elimination of homogentisic acid (HGA), which causes its accumulation. The excessive accumulation of HGA results in ochronosis and ochronotic arthropathy, which mainly affects the thoracolumbar spine and the large joints, leading to the need for joint replacement seeking to improve function and quality of life.
Clinical Case: hereby is presented a 67-years-old female patient with history of alkaptonuria with diffuse painful right hip of 4 years of evolution.
Cureus
June 2024
Orthopaedics, RNH Hospital Pvt. Ltd., Nagpur, IND.
Clin Neurol Neurosurg
July 2024
Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium.
J Orthop Case Rep
February 2024
Department of Orthopaedics, Amandeep Hospital, Amritsar, Punjab, India.
Cureus
August 2023
Department of Spine Services, Indian Spinal Injuries Centre, New Delhi, IND.
Alkaptonuria is a rare autosomal recessive trait. Symptomatic lumbar disc herniation warranting surgical intervention is a rare scenario in alkaptonuria and only a few cases have been described in the literature. We present one such rare case of alkaptonuria in a 31-year-old female presenting with low back pain and left leg radiculopathy not relieved with conservative management.
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