Results 41 to 50 of about 4,051 (207)

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, Michele Cauteruccio, Maria Serena Oliva, Giuseppe Sircana, Raffaele Vitiello, Giuseppe Rovere, Francesco Muratori, Giulio Maccauro, Antonio Ziranu   +8 more
doaj   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Bacterial quality of urinary tract in patients with alkaptonuria.

American Journal of the Medical Sciences, 2023
BACKGROUND The aim of the current study is to determine whether there is an association between alkaptonuria (AKU) and urinary tract infection (UTI) by exploring the bacterial quality of the urinary tract, as most of the patients with AKU present with ...
Amjad A. Al-Tarawneh, M. Al-limoun, A. Khlaifat, Ibrahim N. Tarawneh, Nesrin Mwafi, K. Khleifat, Moath Alqaraleh, Hussam Mizher   +7 more
semanticscholar   +1 more source

Endogenous ochronosis/Alkaptonuria: A case report highlighting the correlation between dermoscopy and histopathology

Indian Journal of Dermatopathology and Diagnostic Dermatology, 2023
Endogenous ochronosis/Alkaptonuria is a rare, genetic metabolic disease presenting with cutaneous hyperpigmentation, disabling arthropathy, and homogentisic aciduria.
Sunanda Mahajan, Shreya Singh, Hershada S Mithari   +2 more
semanticscholar   +1 more source

Alkaptonuria: Case report

Medical Journal of Dr. D.Y. Patil University, 2015
Alkaptonuria is a rare, autosomal-recessive disorder of phenylalanine/tyrosine metabolism due to congenital deficiency of the enzyme homogentisic acid oxidase. Herein, we are reporting a classical case of alkaptonuria with extensive skin pigmentation and
Swapna S Khatu, Yuvraj E More, Divyank Vankawala, Deepali Chavan, Neeta R Gokhale   +4 more
doaj   +1 more source

Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling

JIMD Reports, 2022
Background Outcomes from studies employing nitisinone 10 mg and 2 mg in alkaptonuria were compared. Patients and methods Sixty‐nine patients in each of the nitisinone (10 mg daily) and controls of suitability of nitisinone in alkaptonuria 2 (SONIA 2), as
Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Milad Khedr, Brendan P. Norman, Mohammed Alsbou, Richard Imrich, Matthew Gornall, Nicolas Sireau, James A. Gallagher, Richard Jackson   +10 more
doaj   +1 more source

Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. [PDF]

, 2016
BACKGROUND: Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for AKU.
Andrea Zatkova, Andrew T Hughes, Anna M Milan, Annalisa Santucci, Anthony K Hall, Arvid Cronlund, Birgitta Olsson, Carin Junestrand, Christa van Kan, Daniela Braconi, Dinny Laan, Eftychia E Psarelli, Federica Genovese, Gordon Ross, Hana Ayoob, Helen Bygott, Helliwell, Hughes, Introne, James A Gallagher, Johan Szamosi, John J Dutton, Jonathan C Jarvis, Jozef Rovensky, Judith McCaffrey, Kim-Hanh Le Quan Sang, La Du, Lakshminarayan R Ranganath, Lennart Svensson, Lindstedt, Martina Nemethova, Mattias Rudebeck, McKiernan, Michael C Briggs, Milch, Nicolas Sireau, O'Brien, Oliver G Timmis, Peter Christensen, Phornphutkul, Preston, Ranganath, Ranganath, Richard Fitzgerald, Richard Imrich, Stewart, Suwannarat, Tinti, Torbjörn Kullenberg, Trevor F Cox, Zannoni, Zatkova   +51 more
core   +1 more source

Ochronotic Arthropathy and Alkaptonuria (Ochronosis): Case Report

Revista Brasileira de Ortopedia, 2023
Resumo A alcaptonúria ( alkaptonuria , AKU, em inglês) é uma condição genética rara em que a deficiência da enzima ácido homogentísico oxidase, produzida pelo fígado e pelos rins, interfere no metabolismo dos aminoácidos fenilalanina e tirosina.
Diego Ariel de Lima, Yaly Rebouças Carneiro Bastos, Jailson Castro de Aquino Filho, D. Paiva, Renata Clazzer, Lana Lacerda de Lima   +5 more
semanticscholar   +1 more source

Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone

Data in Brief, 2018
Alkaptonuria is a rare genetic disorder characterized by a high level of circulating (and urine) homogentisic acid (HGA), which contributes to ochronosis when it is deposited in connective tissue as a pigmented polymer.
R. Griffin, E.E. Psarelli, T.F. Cox, M. Khedr, A.M. Milan, A.S. Davison, A.T. Hughes, J.L. Usher, S. Taylor, N. Loftus, A. Daroszewska, E. West, A. Jones, M. Briggs, M. Fisher, M. McCormick, S. Judd, S. Vinjamuri, N. Sireau, J.P. Dillon, J.M. Devine, G. Hughes, J. Harrold, G.J. Barton, J.C. Jarvis, J.A. Gallagher, L.R. Ranganath   +26 more
doaj   +1 more source

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
doaj   +1 more source