Results 41 to 50 of about 2,793 (181)

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
doaj   +1 more source

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, Franz Josef Putz, Andreas Keyser, Christof Schmid   +3 more
doaj   +1 more source

Alkaptonuria caused by compound heterozygote mutations [PDF]

, 2003
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive disorder of inborn errors of metabolism. It is characterised by the deposition of much less than ochronotic pigment much greater than especially in ...
Ergun, T, Gurbuz, O, Kotiloglu, E, Elcioglu, NH, Muller, CR, Elcioglu, M, Aytug, AF   +6 more
core   +1 more source

Alkaptonuria and Ochronotic Arthropathy: The Path to Pain-Free Mobility

Case Reports in Clinical Practice
This 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, Mohammadreza Barzegar, Mohammadreza Razzaghof, Seyed Mohammad Javad Mortazavi   +3 more
doaj   +1 more source

Alkaptonuria: a rare genetic disorder diagnosed in an elderly female

Asian Journal of Internal Medicine
Alkaptonuria is a rare autosomal recessive disorder of phenylalanine/ tyrosine metabolism. We present a case report of a 78-year-old woman treated for urosepsis complicated due to renal stones and found to have alkaptonuria. Alkaptonuria is common among
S. Madhuwantha, S. Ghetheeswaran, E. Jasinghe, R. Mathanky   +3 more
doaj   +1 more source

Study of the Oxidation Behavior of Tyrosine Using Electrochemistry, Capillary Electrophoresis, and Mass Spectrometry

Electroanalysis, Volume 38, Issue 5, May 2026.
Online electrochemistry with mass spectrometry, followed by a combination of these two techniques with capillary electrophoresis as a strong separation technique in between, is used to study the oxidation behavior of L‐tyrosine at a neutral pH value to suggest possible electrogenerated products on the surface of a carbon‐based screen‐printed electrode.
Seyedehelahe Bagherimetkazini, Frank‐Michael Matysik   +1 more
wiley   +1 more source

Cross‐Cultural Beliefs and Stigmatization in Vitiligo: A Systematic Review

Journal of Cosmetic Dermatology, Volume 25, Issue 4, April 2026.
ABSTRACT Background Vitiligo is an autoimmune condition marked by depigmentation of the skin and is frequently associated with psychosocial distress. Although often dismissed as cosmetic, vitiligo carries a substantial burden influenced by cultural beliefs, stigma, and access to medical education.
Sophia Ma, Tarek Zieneldien, Isabella J. Tan, Mohammad Jafferany   +3 more
wiley   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Alkaptonuric patient presenting with “black” disc: a case report

Acta Orthopaedica et Traumatologica Turcica, 2020
Although intervertebral disc degeneration usually occurs in the natural course of alkaptonuria, detection of the disease by black disc material in a patient without any other sign of alkaptonuria is an extremely rare condition.
Ramazan Kahveci, Mehmet Fikret Ergungor, Ahmet Gunaydin, Atiye Temiz   +3 more
doaj   +1 more source

Alkaptonuria: A hereditary disease which is usually diagnosed in adulthood

Clinical Dermatology Review, 2021
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homogentisate dioxygenase leading to accumulation of homogentisic acid.
Mudita Gupta, Rajni Sharma, Ritu Rani
doaj   +1 more source