Results 51 to 60 of about 4,051 (207)

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

Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria.

Archives of Biochemistry and Biophysics, 2022
Alkaptonuria (AKU) is an ultra-rare genetic disease caused by a deficient activity of the enzyme homogentisate 1,2-dioxygenase (HGD) leading to the accumulation of homogentisic acid (HGA) on connective tissues. Even though AKU is a multi-systemic disease,
Silvia Galderisi, M. Milella, M. Rossi, Vittoria Cicaloni, R. Rossi, D. Giustarini, O. Spiga, L. Tinti, L. Salvini, C. Tinti, D. Braconi, L. Millucci, P. Lupetti, F. Prischi, G. Bernardini, A. Santucci   +15 more
semanticscholar   +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

Imaging and CSF analyses effectively distinguish CJD from its mimics [PDF]

, 2017
OBJECTIVE: To review clinical and investigation findings in patients referred to a specialist prion clinic who were suspected to have sporadic Creutzfeldt-Jakob disease (sCJD) and yet were found to have an alternative final diagnosis. METHODS: Review the
Collinge, J, Green, A, Hyare, H, Mead, S, Rudge, P   +4 more
core   +1 more source

Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria

International Journal of Molecular Sciences, 2022
Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and tyrosine degradation.
D. Grasso, M. Geminiani, Silvia Galderisi, G. Iacomelli, L. Peruzzi, B. Marzocchi, A. Santucci, A. Bernini   +7 more
semanticscholar   +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

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

What does the arthropathy of alkaptonuria teach us about disease mechanisms in osteoarthritis and ageing of joints? Lessons from a rare disease [PDF]

, 2016
AKU Society, the Rosetrees Foundation, the Childwick Trust, the Big Lottery and ...
Alan Boyde, James A. Gallagher, Lakshminarayan R. Ranganath, Sweet, Taylor   +4 more
core   +1 more source

Intraoperative Findings in Total Hip Arthroplasty Leading to a Diagnosis of Alkaptonuria in a Patient With Severe Hip Osteoarthritis Initially Attributed to Rheumatoid Arthritis: A Case Report

Cureus
Alkaptonuria is a rare inherited condition caused by elevated levels of homogentisic acid, which confers a characteristic dark color on tissues like cartilage and bones over time, a process known as ochronosis.
Ioannis K Tzellios, Stefanos C Papageorgiou, Fotios A Tilkidis, E. Pakos   +3 more
semanticscholar   +1 more source

Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria

Metabolites, 2022
Metabolomic analyses in alkaptonuria (AKU) have recently revealed alternative pathways in phenylalanine-tyrosine (phe-tyr) metabolism from biotransformation of homogentisic acid (HGA), the active molecule in this disease.
B. Norman, A. Davison, Bryony Hickton, G. Ross, A. Milan, A. Hughes, P. Wilson, H. Sutherland, J. Hughes, N. Roberts, George Bou-Gharios, J. Gallagher, L. Ranganath   +12 more
semanticscholar   +1 more source