Results 51 to 60 of about 2,793 (181)

First report of alkaptonuria in Peru

Revista Peruana de Medicina Experimental y Salud Pública, 2014
Alkaptonuria is an inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD) which produces an excess of homogentisic acid (HGA). A case is presented of a 57 year old woman whose urine has turned black since birth.
Daniel Guillén-Mendoza, María Quiroga de Michelena   +1 more
doaj   +1 more source

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Palliative care should be an integral part of follow‐up for patients with life‐limiting/life‐threatening conditions, irrespective of age and diagnosis. Many patients with inherited metabolic disorders (IMD) have palliative care needs due to multi‐systemic conditions without curative treatment options.
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, Julia Neugebauer, Francois Eyskens, Dorothea Haas, Karin Mossler, Antije Enekwe, Beata Kiec‐Wilk, Lien My Diep, Cinzia Maria Bellettato, Boris Zernikow, Maurizio Scarpa, Shamima Rahman, Trine Tangeraas, MetabERN collaboration group on palliative care, Aasne K Aarsand, Patrício Aguiar, Brassier Anaϊs, Jean‐Baptiste Arnoux, Madara Auzenbaha, Olga Azevedo, Anabela Oliveira Bandeira, Amaya Belanger‐Quintana, Marcello Bellusci, Nadia Belmatoug, Andrea Bordugo, Annet M Bosch, Mara Botti, Radan Brůha, Teresa Campos, Cândida Cancelinha, Giovanni Ceccarini, Graziella Cefalo, Rimante Cerkauskiene, Ellen Crushell, Paulo Castro Chaves, Anibh Martin Das, Corinne De Laet, Terry GJ Derks, Felix Distelmaier, Dries Dobbelaere, João Durães, Marc Engelen, Ana Cristina Leal das Neves Ferreira, Serena Gasperini, Urh Groselj, Sarah C Grünert, Debray François‐Guillaume, Arlindo Guimas, Evren Gumus, Sabine Weller Grønborg, Julia B Hennermann, Javier de las Heras, Hidde H Huidekoper, Mirian Ch Janssen, Pavel Ješina, Stefan Kölker, Eva M M Hoytema van Konijnenburg, Alessandro La Rosa, Svetlana Lajic, Risto Lapatto, Elisa Leão‐Teles, Vincenzo Leuzzi, Allan M Lund, Maria Carmo Macário, Martin Magner, Giacomo Marchi, Diego Martinelli, Esmeralda Martins, Mariarosa Anna Beatrice Melone, Dorothea Moeslinger, Ahmad Ardeshir Monavari, Sónia Moreira, Nicole Muschol, Marie‐Cécile Nassogne, Andreas Oberg, Thomas Opladen, Katrin Õunap, Bianca Panis, Germaine Pierre, Francesco Porta, Pilar Quijada‐Fraile, Danijela Petković Ramadža, Esmeralda Rodrigues, Alessandro Rossi, Paula Sánchez‐Pintos, Maria Cristina Schiaffino, Anke Schumann, Sinziana Stanescu, Mojca Žerjav Tanšek, Joanna Taybert, Kiarash Tazmini, Birute Tumiene, Arnaud Vanlander, Patrick Verloo, Komninaka Veroniki, Elena Verrecchia, Natalie Weinhold, Tamara Žigman, Mette Cathrine Ørngreen   +100 more
wiley   +1 more source

T1 Hyperintense Disc in Alkaptonuria

, 2012
Study Design. Case report. Objective. To report a rare case of alkaptonuria presenting as a T1-hyperintense disc herniation. Summary of Background Data.
Wilson, Jon, Silbergleit, Richard, Krishnan, Anant, Sag, Alan A., Olson, Rick E.   +4 more
core   +1 more source

The black root: Aortic valve sparing in alkaptonuria

, 2022
We report an unusual case of black discoloration of an aortic root aneurysm and aortic valve cusps due to homogentisic acid deposition in a patient suffering from alkaptonuria.
Scaffa R., De Paulis R., Folino G., Coscioni E., Guerrieri L., Salica A., Gerosa G., Weltert L., Irace F., D'Aleo S.   +9 more
core   +1 more source

A Previously Undiagnosed Case of Alkaptonuria: A Case Report

The Turkish Journal of Gastroenterology, 2013
Alkaptonuria is a rare metabolic disorder in the phenylalanine and tyrosine catabolic pathway which is characterized by the excessive excretion of homogentisic acid in the urine, ochronosis, and debilitating arthritis of the spine and large joints ...
Mohammed ALSBOU, Nesrin MWAFI
doaj  

Ochronotic Spondyloarthropathy [PDF]

Journal of Clinical and Diagnostic Research, 2013
Images in ...
Upasana Ranga, Senthil Kumar Aiyappan , Natarajan Shanmugam , Saveetha Veeraiyan   +3 more
doaj   +1 more source

Ochronotic arthropathy effectively treated with total hip and total knee arthroplasty: a case report

Frontiers in Medicine, 2023
Ochronosis is a rare autosomal recessive disorder of tyrosine metabolism characterized by multilevel spinal degeneration and arthritis of large weight-bearing joints, which is referred to as ochronotic arthropathy.
Yikai Liu, Chenkai Li, Zian Zhang, Xinzhe Lu, Haining Zhang   +4 more
doaj   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
wiley   +1 more source

Analysis of Interactions Between Pyomelanin and the Extracellular Matrix in an Ex Vivo Turkey Tendon Model

ChemistryOpen, Volume 14, Issue 6, June 2025.
Polymerization of homogentisic acid in the presence of extracellular matrix (ECM) components (an ex vivo turkey tendon model) yields simplified versions of biologically generated melanins in the ECM, facilitating studies of melanin–ECM interactions. A variety of techniques (X‐ray diffraction, microscopy, and spectroscopy) were employed to understand ...
Rebecca F. Shepherd, Hanaa A. Galeb, Jade Bentham, Reza Moshrefi, Katelyn Ryan, Nur Adeelah Che Ahmad Tantowi, Sara J. Baldock, Nathan R. Halcovitch, T. Jane Stockmann, John G. Hardy, Jemma G. Kerns, Adam M. Taylor   +11 more
wiley   +1 more source

Previously undiagnosed tyrosine metabolism disorder – alkaptonuria (a clinical case)

Клинический разбор в общей медицине
Alkaptonuria is a rare metabolic disorder in the catabolic pathway of phenylalanine and tyrosine, which is characterized by excessive release of homogentisic acid in the urine, ochronosis and arthropathy of the spine and large joints.
Nikita M. Nikitin, Margarita A. Gromova , Mikhail A. Bolotnikov, Ekaterina S. Biryuk   +3 more
doaj   +1 more source