Results 31 to 40 of about 2,978 (184)
Neurology International, 2017 Alkaptonuria is a rare metabolic disease characterised by accumulative deposition of homogentisic acid in the connective tissue of the body. This results in early degeneration of tendons, cartilages, heart valves, and other tissues. The main objective of
Omar Alrawashdeh +3 more
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Lumbar disc herniation in ochronosis
Indian Spine Journal, 2019 Alkaptonuria is a rare metabolic, autosomal recessive disorder caused by the deficiency of homogentisic acid oxidase and it is characterized by bluish-black discoloration of cartilages, skin (Ochronosis), degenerative changes in the articular, extra ...
Subbiah Jayakumar +2 more
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, 2013 Alkaptonuria (AKU) is an autosomal recessive inborn error metabolism resulting from deficiency of homogentisic acid oxidase (homogentisate 1, 2-dioxygenase) that is required in the metabolism of phenylalanine and tyrosine during the step when ...
Nelwan, Martin L.
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Hip and knee replacement in patients with ochronosis: Clinical experience and literature review
Orthopedic Reviews, 2020 Patients with alkaptonuria can present ochronotic degenerative arthropathy due to the accumulation of pigments in the cartilages. Ochronotic arthropathy initially affects the spine, then there is the involvement of the other large joints, with greater ...
Cesare Meschini +8 more
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Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
Frontiers in Surgery, 2023 BackgroundAlkaptonuria is a rare autosomal genetic disorder with an incidence of about 1 in 1 million per year. Spinal involvement often manifests in the later stages of the disease.
Hong Ding +4 more
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Ochronotic Chronic Tendoachilles Rupture Management: A Case Series [PDF]
Journal of Foot and Ankle Surgery (Asia Pacific)Background: Alkaptonuria is a rare inherited genetic disorder in which there is a deficiency of the enzyme homogentisate 1,2-dioxygenase. The three characteristics of alkaptonuria are homogentisic-aciduria, ochronosis, and ochronotic arthropathy ...
Jeremy B Dorai, Issac Jebaraj
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Alkaptonuric ochronosis of the carotid artery
SAGE Open Medical Case Reports, 2020 Alkaptonuria is a rare autosomal-recessive metabolic disorder of tyrosine degradation which results in elevated levels of circulating homogentisic acid. Ochronosis occurs when homogentisic acid polymerizes and deposits in connective tissue.
Anand Shah, Andrew Son, Payam Salehi
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Black Aortic Valve: Incidental Finding of Alkaptonuria
The Thoracic & Cardiovascular Surgeon Reports, 2021 Background Alkaptonuria is a rare autosomal recessive genetic disorder of tyrosine metabolism, which results in accumulation of homogentisic acid in various tissues, including the cardiovascular system.
Christina Putz +3 more
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Alkaptonuria and Ochronotic Arthropathy: The Path to Pain-Free Mobility
Case Reports in Clinical PracticeThis article discusses a case of ochronotic arthropathy, a manifestation of alkaptonuria. Alkaptonuria is characterized by the accumulation of homogentisic acid [HGA] in tissues, leading to a distinctive blue-black pigmentation and early joint ...
Mohammad Poursalehian +3 more
doaj +1 more source