Results 31 to 40 of about 1,633 (163)

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

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

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

Case report: Thoracolumbar spinal stenosis associated with alkaptonuria

Frontiers in Surgery, 2023
BackgroundAlkaptonuria is a rare autosomal genetic disorder with an incidence of about 1 in 1 million per year. Spinal involvement often manifests in the later stages of the disease.
Hong Ding, Liang Wang, Gan-Jun Feng, Yue-Ming Song, Li-Min Liu   +4 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

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 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