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. On physical examination, clinical manifestations were found consistent with ochronosis and ochronotic arthropathy. Imaging studies revealed loss of right hip joint space, osteophytes, and acetabular sclerosis.
Conclusions: joint hip replacement is an effective therapy in improving the quality of life with hip arthropathy secondary to alkaptonuria, despite this, the literature on long-term follow-up about this treatment needs to be enriched.
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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.
Rev Bras Ortop (Sao Paulo)
November 2024
Departamento de Ciências da Saúde, Centro de Ciências Biológicas e da Saúde (CCBS), Universidade Federal Rural do Semi-Árido (Ufersa), Mossoró, RN, Brasil.
Alkaptonuria (AKU) is a rare genetic condition resulting from a deficiency in the homogentisic acid oxidase enzyme, which is produced by the liver and kidneys, that interferes with the metabolism of the amino acids phenylalanine and tyrosine. Although it may not cause symptoms, AKU can lead to ochronosis, the abnormal accumulation in body tissues of a pigment called alkapton. Over time, this pigment accumulation in the joints may result in secondary osteoarthritis known as ochronotic arthropathy, the most debilitating form of the disease.
View Article and Find Full Text PDFAdv Biomed Res
October 2024
Department of Orthopedic and Trauma Surgery, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Alkaptonuria is a metabolic disorder characterized by homogentisic acid accumulation in connective tissue. Ochronotic arthropathy, a rare condition reported in alkaptonuria, mostly affects the knee joint. In this study we reported a 57-year-old male patient presented with bilateral hip pain.
View Article and Find Full Text PDFJ Anat
December 2024
Human Anatomy Resource Centre, Education Directorate, University of Liverpool, Liverpool, UK.
Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolised homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived from HGA, has previously been reported and described in large joints obtained from arthroplasty surgeries, which typically have advanced disease.
View Article and Find Full Text PDFJ Orthop Case Rep
December 2024
Department of Orthopaedics, Government Medical College Trivandrum, Kerala, India.
Introduction: Alkaptonuria is a rare metabolic disorder that follows an autosomal recessive genetic inheritance pattern. It is distinguished by the buildup of homogentisic acid in tissues due to deficient homogentisic acid oxidase enzyme activity. The excess homogentisic acid is expelled through urine, darkening it on oxidation.
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