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alkaptonuria

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https://www.readbyqxmd.com/read/28028161/cartilage-biomarkers-in-the-osteoarthropathy-of-alkaptonuria-reveal-low-turnover-and-accelerated-ageing
#1
Adam M Taylor, Ming-Feng Hsueh, Lakshminarayan R Ranganath, James A Gallagher, Jane P Dillon, Janet L Huebner, Jon B Catterall, Virginia B Kraus
OBJECTIVE: Alkaptonuria (AKU) is a rare autosomal recessive disease resulting from a single enzyme deficiency in tyrosine metabolism. As a result, homogentisic acid cannot be metabolized, causing systemic increases. Over time, homogentisic acid polymerizes and deposits in collagenous tissues, leading to ochronosis. Typically, this occurs in joint cartilages, leading to an early onset, rapidly progressing osteoarthropathy. The aim of this study was to examine tissue turnover in cartilage affected by ochronosis and its role in disease initiation and progression...
January 2017: Rheumatology
https://www.readbyqxmd.com/read/28019670/smoothened-antagonists-reverse-homogentisic-acid-induced-alterations-of-hedgehog-signalling-and-primary-cilium-length-in-alkaptonuria
#2
Silvia Gambassi, Michela Geminiani, Stephen D Thorpe, Giulia Bernardini, Lia Millucci, Daniela Braconi, Maurizio Orlandini, Clare L Thompson, Elena Petricci, Fabrizio Manetti, Maurizio Taddei, Martin M Knight, Annalisa Santucci
Alkaptonuria (AKU) is an ultra-rare genetic disease, in which the accumulation of a toxic metabolite, homogentisic acid (HGA) leads to the systemic development of ochronotic aggregates. These aggregates cause severe complications mainly at the level of joints with extensive degradation of the articular cartilage. Primary cilia have been demonstrated to play an essential role in development and the maintenance of articular cartilage homeostasis, through their involvement in mechanosignalling and Hedgehog signalling pathways...
December 26, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27980763/operating-the-blues
#3
Andrew C Chatzis, Meletios A Kanakis, Joanne Sofianidou, Alexandros J Tsoutsinos
A 63-year-old man bearing most signs and symptoms (facial pigmentation, degenerative arthritis, and dark urine) pertinent to his known history of alkaptonuria underwent aortic valve replacement for critical aortic stenosis. Although rare, aortic stenosis is the most common cardiac manifestation of alkaptonuric ochronosis.
December 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27971735/development-of-an-economic-model-to-assess-the-cost-effectiveness-of-nitisinone-as-a-treatment-for-alkaptonuria-in-the-uk
#4
C McCarron
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27943071/analysis-of-melanin-like-pigment-synthesized-from-homogentisic-acid-with-or-without-tyrosine-and-its-implications-in-alkaptonuria
#5
Adam M Taylor, Koen P Vercruysse
Alkaptonuria is an iconic disease used by Archibald Garrod to demonstrate the theory of "inborn errors of metabolism". AKU knowledge has advanced in recent years: development of an in vitro model, discovery of murine models and advances in understanding bone and cartilage phenotypes and arthropathy in AKU. These discoveries have aided in a new clinical trial into nitisinone. However, there are still knowledge gaps surrounding the pigment in AKU and the pigmentation process. We demonstrate an advance in the understanding in the kinetics and chemistry of the polymerisation of homogentisic acid (HGA) into its pigment using size-exclusion chromatography and IR spectroscopy...
December 10, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27904192/a-case-of-alkaptonuria-with-degenerative-collagenous-plaques-and-foot-drop
#6
C Chandrakala, Gurusami Karuvelan Tharini, M Ananthi, R Subha
No abstract text is available yet for this article.
November 2016: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/27865997/homogentisic-acid-induces-aggregation-and-fibrillation-of-amyloidogenic-proteins
#7
Daniela Braconi, Lia Millucci, Andrea Bernini, Ottavia Spiga, Pietro Lupetti, Barbara Marzocchi, Neri Niccolai, Giulia Bernardini, Annalisa Santucci
BACKGROUND: Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism characterized by homogentisic acid (HGA) accumulation due to a deficient activity of the homogentisate 1.2-dioxygenase (HGD) enzyme. This leads to the production of dark pigments that are deposited onto connective tissues, a condition named 'ochronosis' and whose mechanisms are not completely clear. Recently, the potential role of hitherto unidentified proteins in the ochronotic process was hypothesized, and the presence of Serum Amyloid A (SAA) in alkaptonuric tissues was reported, allowing the classification of AKU as a novel secondary amyloidosis...
February 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27817975/long-term-result-of-arthroplasty-in-the-treatment-of-a-case-of-ochronotic-arthropathy
#8
Sinan Karaoğlu, Fatih Karaaslan, Musa Uğur Mermerkaya
Alkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogentisic acid oxidase, which results in excess homogentisic acid (HGA) levels. Homogentisic acid and its oxidation products can accumulate in hyaline cartilage, tendons, and ligaments. A 55-year-old male was admitted complaining of worsening chronic pain in his left knee. A radiographic evaluation showed tricompartmental end- stage osteoarthritis. A cemented total knee replacement was performed. At the 10-year follow-up, he had returned to full activity, had no knee pain, and was very satisfied with the outcome...
October 2016: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/27816602/alkaptonuric-ochronosis
#9
Onkar Singh, Rajadoss Muthukrishna Pandian, Nitin Sudhakar Kekre
Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in urolithiasis. Excretion of excessive homogentisic acid in urine causes dark-colored urine on exposure to air. We present a case of alkaptonuria with multiple system involvement, who presented with lower urinary tract symptoms secondary to vesical and prostatic calculi...
November 2, 2016: Urology
https://www.readbyqxmd.com/read/27784639/gas-chromatography-mass-spectrometry-based-urine-metabolome-study-in-children-for-inborn-errors-of-metabolism-an-indian-experience
#10
Mahesh H Hampe, Shrimant N Panaskar, Ashwini A Yadav, Pramod W Ingale
OBJECTIVE: The present study highlights the feasibility of gas chromatography/mass spectrometry (GC/MS)-based analysis for simultaneous detection of >200 marker metabolites in urine found in characteristic pattern in inborn errors of metabolism (IEM) in India. DESIGN AND METHODS: During this retrospective study conducted from July 2013 to January 2016, we collected urine specimens on filter papers from Indian children across the country along with relevant demographic and clinical data...
October 23, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27734648/alkaptonuric-ochronosis
#11
Renu Saigal, M L Tank, Prashant Pathak, Alok Choudhary, Suresh Saigal
Alkaptonuria is an autosomal recessive metabolic disorder characterized by joints and spine involvement, ochronosis and presence of homogentisic acid in urine and its deposition in cartilage, intervertebral disc and other connective tissues, leading to disabling arthritis in elderly individual.
April 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27671890/angiogenesis-in-alkaptonuria
#12
Lia Millucci, Giulia Bernardini, Barbara Marzocchi, Daniela Braconi, Michela Geminiani, Silvia Gambassi, Marcella Laschi, Bruno Frediani, Federico Galvagni, Maurizio Orlandini, Annalisa Santucci
Alkaptonuria (AKU) is a rare genetic disease that affects the entire joint. Current standard of AKU treatment is palliative and little is known about its physiopathology. Neovascularization is involved in the pathogenesis of systemic inflammatory rheumatic diseases, a family of related disorders that includes AKU. Here, we investigated the presence of neoangiogenesis in AKU synovium and healthy controls. Synovium from AKU patients, who had undergone total joint replacement or arthroscopy, or from healthy patients without any history of rheumatic diseases, who underwent surgical operation following sport trauma was subjected to hematoxylin and eosin staining...
November 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27660165/identification-of-homogentisate-dioxygenase-as-a-target-for-vitamin-e-biofortification-in-oilseeds
#13
Minviluz Garcia Stacey, Rebecca E Cahoon, Hanh T Nguyen, Cuong T Nguyen, Yaya Cui, Shirley Sato, Nongnat Phoka, Kerry M Clark, Yan Liang, Josef M Batek, Joe Forrester, Phat Tien Do, David A Sleper, Tom E Clemente, Edgar B Cahoon, Gary Stacey
Soybean (Glycine max L.) is a major plant source of protein and oil and produces important secondary metabolites beneficial for human health. As a tool for gene function discovery and improvement of this important crop, a mutant population was generated using fast neutron irradiation. Visual screening of mutagenized seeds identified a mutant line, designated MO12, which produced brown seeds as opposed to the yellow seeds produced by the unmodified Williams 82 parental cultivar. Using forward genetic methods combined with comparative genome hybridization (CGH) analysis, we were able to establish that deletion of the GmHGO1 gene is the genetic basis of the brown seeded phenotype exhibited by the MO12 mutant line...
September 22, 2016: Plant Physiology
https://www.readbyqxmd.com/read/27623417/bronchoscopic-findings-in-a-patient-with-alkaptonuria-black-bronchoscopy
#14
Daniela Machado, Catarina Marques, Filipa Lima, Daniela Ferreira, Ana Oliveira
No abstract text is available yet for this article.
September 10, 2016: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/27590860/comparative-proteomics-in-alkaptonuria-provides-insights-into-inflammation-and-oxidative-stress
#15
Daniela Braconi, Giulia Bernardini, Alessandro Paffetti, Lia Millucci, Michela Geminiani, Marcella Laschi, Bruno Frediani, Barbara Marzocchi, Annalisa Santucci
Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism associated with a defective catabolism of phenylalanine and tyrosine leading to increased systemic levels of homogentisic acid (HGA). Excess HGA is partly excreted in the urine, partly accumulated within the body and deposited onto connective tissues under the form of an ochronotic pigment, leading to a range of clinical manifestations. No clear genotype/phenotype correlation was found in AKU, and today there is the urgent need to identify biomarkers able to monitor AKU progression and evaluate response to treatment...
December 2016: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/27535253/tendons-involvement-in-congenital-metabolic-disorders
#16
Michele Abate, Vincenzo Salini, Isabel Andia
Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. Blocking metabolic pathways, the defect leads to the shortage of essential compounds, and/or to the accumulation of huge quantities of precursors, which interfere with normal functions. Only few of these diseases are characterized by a clinically significant tendon involvement.Heterozygous Familial Hypercholesterolaemia results from the inheritance of a mutant low-density lipoprotein receptor gene; patients show high cholesterol levels, precocious coronary artery disease, and may develop tendon xanthomata (mainly in Achilles tendon)...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27512176/difficult-epidural-in-a-patient-with-undiagnosed-alkaptonuria
#17
Kanchan Bilgi, Satish Jagadeeshan, Prabhakaran Venugopal
No abstract text is available yet for this article.
July 2016: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/27466876/ochronosis-as-etiology-of-requiring-total-knee-arthroplasty-a-case-series
#18
Todd P Pierce, Kimona Issa, Andres Ramirez, Salvatore Sclafani, Steven F Harwin, Anthony J Scillia, Aiman Rifai, Vincent K McInerney
Alkaptonuria is a rare hereditary metabolic disorder that leads to the accumulation of homogentisic acid accumulation and weakens the collagen, creating fissuring and articular cartilage degeneration. Therefore, we are reporting a multicenter case series of three patients (four arthroplasties) who presented with signs and symptoms of ochronotic arthropathy-and eventually underwent total knee arthroplasty (TKA)-and provide a review of the current literature on total joint arthroplasty in ochronotic osteoarthritis...
July 29, 2016: Surgical Technology International
https://www.readbyqxmd.com/read/27454006/cytoskeleton-aberrations-in-alkaptonuric-chondrocytes
#19
Michela Geminiani, Silvia Gambassi, Lia Millucci, Pietro Lupetti, Giulia Collodel, Lucia Mazzi, Bruno Frediani, Daniela Braconi, Barbara Mazzocchi, Marcella Laschi, Giulia Bernardini, Annalisa Santucci
Alkaptonuria (AKU) is an ultra-rare autosomal genetic disorder caused by a defect in the activity of the enzyme homogentisate 1,2-dioxygenase (HGD) that leads to the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in the connective tissues causing a pigmentation called "ochronosis". The consequent progressive formation of ochronotic aggregates generate a severe condition of oxidative stress and inflammation in all the affected areas. Experimental evidences have also proved the presence of serum amyloid A (SAA) in several AKU tissues and it allowed classifying AKU as a secondary amyloidosis...
July 25, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27382210/alkaptonuria-a-case-of-familial-inheritance-from-hangarki-village-in-dharwad-district-of-karnataka
#20
Dhiraj J Trivedi, Prashanth Naik
Alkaptonuria is a genetic disorder, unknown to the general public and ignored by general physicians due to lack of awareness of its high prevalence. Increasing incidences of familial inheritance are recorded. A 41 years 8 months male with the swollen knee, chronic mechanical pain, restricted limping walk and tingling sensation in the limb. Also, has a complaint of the stiffness of back in the morning, which gets relieved by movement. Mild hyper pigmentation of pinna and sclera of eye. X-ray report reveals osteoarthritis of the knee and thoracic kyphosis...
July 2016: Indian Journal of Clinical Biochemistry: IJCB
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