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alkaptonuria

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https://www.readbyqxmd.com/read/28271171/histological-and-ultrastructural-characterization-of-alkaptonuric-tissues
#1
Lia Millucci, Giulia Bernardini, Adriano Spreafico, Maurizio Orlandini, Daniela Braconi, Marcella Laschi, Michela Geminiani, Pietro Lupetti, Giovanna Giorgetti, Cecilia Viti, Bruno Frediani, Barbara Marzocchi, Annalisa Santucci
Alkaptonuria (AKU) is a hereditary disorder that results from altered structure and function of homogentisate 1,2 dioxygenase (HGD). This enzyme, predominantly produced by liver and kidney, is responsible for the breakdown of homogentisic acid (HGA), an intermediate in the tyrosine degradation pathway. A deficient HGD activity causes HGA levels to rise systemically. The disease is clinically characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and joint arthropathy...
March 7, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28240677/an-unusual-cause-of-myelopathy-ochronotic-spondyloarthropathy-with-positive-hla-b27
#2
Sinem Bozkurt, Lale Aktekin, Fatma Gülçin Uğurlu, Serdar Balci, Nebahat Sezer, Selami Akkus
Ochronosis is a late developing complication of alkaptonuria, a black brownish pigment in the fibrous and cartilaginous tissues. Although most previous studies reported alkaptonuria and back pain due to ochronosis, thoracic myelopathy is an extremely rare complication. In this report, a paraparetic patient who has ochronotic spondiloarthropathy with the presence of HLA B27 antigen is described. He had low back and leg pain and morning stiffness for 5 yrs. Last year, these were followed by tingling, numbness, and weakness the in lower extremities and he was operated on with preliminary diagnosis of prolapsed disc herniation and cord compression...
February 24, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28217270/neurological-assessment-and-nerve-conduction-study-findings-in-22-patients-with-alkaptonuria-from-jordan
#3
Omar Alrawashdeh, Mohammad Alsbou, Hamed Alzoubi, Hani Al-Shagahin
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 the study is to examine the possibility of the nervous system involvement in patients with alkaptonuria The sample consists of two groups; 22 patients with AKU and 20 controls. A neurological assessment has been carried out including detailed medical history, neurological examination, and a nerve conduction study of the nerves of the dominant hand...
November 2, 2016: Neurology International
https://www.readbyqxmd.com/read/28192171/a-new-light-on-alkaptonuria-a-fourier-transform-infrared-microscopy-ftirm-and-low-energy-x-ray-fluorescence-lexrf-microscopy-correlative-study-on-a-rare-disease
#4
Elisa Mitri, Lia Millucci, Lucia Merolle, Giulia Bernardini, Lisa Vaccari, Alessandra Gianoncelli, Annalisa Santucci
BACKGROUND: Alkaptonuria (AKU) is an ultra-rare disease associated to the lack of an enzyme involved in tyrosine catabolism. This deficiency results in the accumulation of homogentisic acid (HGA) in the form of ochronotic pigment in joint cartilage, leading to a severe arthropathy. Secondary amyloidosis has been also unequivocally assessed as a comorbidity of AKU arthropathy. Composition of ochronotic pigment and how it is structurally related to amyloid is still unknown. METHODS: We exploited Synchrotron Radiation Infrared and X-Ray Fluorescence microscopies in combination with conventional bio-assays and analytical tools to characterize chemical composition and morphology of AKU cartilage...
February 9, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28158906/reduced-primary-cilia-length-and-altered-arl13b-expression-are-associated-with-deregulated-chondrocyte-hedgehog-signalling-in-alkaptonuria
#5
Stephen D Thorpe, Silvia Gambassi, Clare L Thompson, Charmilie Chandrakumar, Annalisa Santucci, Martin M Knight
Alkaptonuria (AKU) is a rare inherited disease resulting from a deficiency of the enzyme homogentisate 1,2-dioxygenase which leads to the accumulation of homogentisic acid (HGA). AKU is characterised by severe cartilage degeneration, similar to that observed in osteoarthritis. Previous studies suggest that AKU is associated with alterations in cytoskeletal organisation which could modulate primary cilia structure/function. This study investigated whether AKU is associated with changes in chondrocyte primary cilia and associated Hedgehog signalling which mediates cartilage degradation in osteoarthritis...
February 3, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28128559/4-hydroxyphenylpyruvate-dioxygenase-and-its-inhibition-in-plants-and-animals-small-molecules-as-herbicides-and-agents-for-the-treatment-of-human-inherited-diseases
#6
Annalisa Santucci, Giulia Bernardini, Daniela Braconi, Elena Petricci, Fabrizio Manetti
This review mainly focuses on the physiological function of 4-hydroxyphenylpyruvate dioxygenase (HPPD), as well as on the development and application of HPPD inhibitors of several structural classes. Among them, one illustrative example is represented by compounds belonging to the class of triketone compounds. They were discovered by serendipitous observations on weed growth and were developed as bleaching herbicides. Informed reasoning on nitisinone (NTBC, 14), a triketone that failed to reach the final steps of the herbicidal design and development process, allowed it to become a curative agent for type I tyrosinemia (T1T), and to enter clinical trials for alkaptonuria...
January 27, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28028161/cartilage-biomarkers-in-the-osteoarthropathy-of-alkaptonuria-reveal-low-turnover-and-accelerated-ageing
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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...
February 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/27734648/alkaptonuric-ochronosis
#17
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
#18
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
#19
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
#20
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
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