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Cells Jun 2024Alkaptonuria (AKU) is a genetic disorder that affects connective tissues of several body compartments causing cartilage degeneration, tendon calcification, heart... (Review)
Review
Alkaptonuria (AKU) is a genetic disorder that affects connective tissues of several body compartments causing cartilage degeneration, tendon calcification, heart problems, and an invalidating, early-onset form of osteoarthritis. The molecular mechanisms underlying AKU involve homogentisic acid (HGA) accumulation in cells and tissues. HGA is highly reactive, able to modify several macromolecules, and activates different pathways, mostly involved in the onset and propagation of oxidative stress and inflammation, with consequences spreading from the microscopic to the macroscopic level leading to irreversible damage. Gaining a deeper understanding of AKU molecular mechanisms may provide novel possible therapeutical approaches to counteract disease progression. In this review, we first describe inflammation and oxidative stress in AKU and discuss similarities with other more common disorders. Then, we focus on HGA reactivity and AKU molecular mechanisms. We finally describe a multi-purpose digital platform, named ApreciseKUre, created to facilitate data collection, integration, and analysis of AKU-related data.
Topics: Alkaptonuria; Humans; Oxidative Stress; Homogentisic Acid; Inflammation; Animals
PubMed: 38920699
DOI: 10.3390/cells13121072 -
Medicina Clinica Dec 2022
Topics: Humans; Alkaptonuria; Cyclohexanones; Mutation; Nitrobenzoates; Male; Female; Middle Aged
PubMed: 36253209
DOI: 10.1016/j.medcli.2022.08.010 -
Portuguese Journal of Cardiac Thoracic... Jan 2022Near infrared spectroscopy is a non-invasive method to assess regional oxygenation and is being used in transcatheter aortic valve implantation to document periods of... (Review)
Review
Near infrared spectroscopy is a non-invasive method to assess regional oxygenation and is being used in transcatheter aortic valve implantation to document periods of cerebral hypoperfusion, where cerebrovascular events are one of the most feared complications. Alkaptonuria is a rare metabolic disease characterized by accumulation of homogentisic acid in tissues and body fluids. The accumulation of pigment might interfere with the absorption of near infrared light, used in near infrared spectroscopy monitoring. We present a case of near infrared spectroscopy failing to accurately monitor cerebral oximetry in a woman, with alkaptonuria, undergoing a transcatheter aortic valve implantation.
Topics: Alkaptonuria; Cerebrovascular Circulation; Female; Humans; Ochronosis; Oximetry; Spectroscopy, Near-Infrared
PubMed: 35334175
DOI: 10.48729/pjctvs.224 -
Revista Portuguesa de Cardiologia :... Feb 2023
Topics: Humans; Transcatheter Aortic Valve Replacement; Alkaptonuria; Aortic Valve; Aortic Valve Stenosis; Treatment Outcome; Heart Valve Prosthesis
PubMed: 36608903
DOI: 10.1016/j.repc.2023.01.002 -
BMJ Case Reports Oct 2023Alkaptonuria is a very rare disorder in which homogentisic acid accumulates due to a deficiency in the activity of homogentisic acid 1,2 dioxygenase. This deficiency...
Alkaptonuria is a very rare disorder in which homogentisic acid accumulates due to a deficiency in the activity of homogentisic acid 1,2 dioxygenase. This deficiency results in deposition of a yellowish-brown pigment in connective tissue. Such deposition is termed 'ochronosis' and leads to deterioration in the formation and structure of proteoglycans in hyaline cartilage. These actions lead to fragmentation and rapid destructive arthritis. Often, ochronotic arthritis appears at 40-60 years of age, and many patients are treated symptomatically. Here, we report two patients (three ankles) with ochronotic arthritis who were treated with ankle arthrodesis. In all cases, the postoperative clinical score improved, but the time needed for fusion was prolonged and symptomatic subtalar arthropathy developed in the early postoperative period.
Topics: Humans; Alkaptonuria; Ankle; Homogentisic Acid; Osteoarthritis; Cartilage Diseases; Arthrodesis
PubMed: 37880174
DOI: 10.1136/bcr-2022-254300 -
The New England Journal of Medicine Feb 2021
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Femur; Homogentisate 1,2-Dioxygenase; Humans; Loss of Function Mutation; Male; Middle Aged; Ochronosis; Patella; Tibia
PubMed: 33535288
DOI: 10.1056/NEJMicm2025932 -
Nederlands Tijdschrift Voor Geneeskunde Dec 1977
Topics: Aged; Alkaptonuria; Female; Homogentisic Acid; Humans; Hypertension; Male; Middle Aged; Spinal Osteophytosis
PubMed: 593444
DOI: No ID Found -
Quarterly Bulletin. Northwestern... 1958
Topics: Alkaptonuria; Cortisone; Humans; Ochronosis
PubMed: 13554742
DOI: No ID Found -
Rheumatology (Oxford, England) Jan 2021
Topics: Alkaptonuria; Diagnosis, Differential; Humans; Male; Middle Aged; Myositis
PubMed: 32653927
DOI: 10.1093/rheumatology/keaa342 -
Eastern Mediterranean Health Journal =... 2008
Review
Topics: Alkaptonuria; Ascorbic Acid; Child, Preschool; Consanguinity; Early Diagnosis; Genes, Recessive; Homogentisic Acid; Humans; Iraq; Male; Ochronosis; Rare Diseases
PubMed: 18720640
DOI: No ID Found