Lower urinary tract symptoms and prostatic calculi: A rare presentation of alkaptonuria
Indian Journal of Urology, 2012 Alkaptonuria is a rare tyrosine metabolic disorder. A deficiency of homogentisic acid oxidase leads to accumulation of homogentisic acid in the body. Dark-colored urine, cutaneous pigmentations and musculoskeletal deformities are characteristic features.
F K Sridhar +3 more
doaj +2 more sources
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy
Acta Orthopaedica et Traumatologica Turcica, 2016 Alkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogentisic acid oxidase, which results in excess homogentisic acid (HGA) levels.
Sinan Karaoğlu +2 more
doaj +2 more sources
Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial. [PDF]
Cells, 2023 Despite urgent warnings about the spread of multidrug-resistant bacteria, the antibiotic development pipeline has remained sparsely populated. Naturally occurring antibacterial compounds may provide novel chemical starting points for antibiotic ...
Ooi N +7 more
europepmc +2 more sources
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots. [PDF]
JIMD Rep, 2017 Two methods are described for homogentisic acid (HGA) determination in dried urine spots (DUS) on paper from Alkaptonuria (AKU) patients, devised for quick early diagnosis.
Jacomelli G +4 more
europepmc +2 more sources
Amyloid Mimicking Assemblies of Homogentisic Acid, N-Acetyl Aspartic Acid and Isovaleric Acid and its Implications in associated Rare Metabolic Diseases [PDF]
, 2023 Herein, we have studied the self-assembling and aggregation properties of Homogentisic acid (HA), N-acetyl aspartic Acid (NAA) and Isovaleric acid (IVA) with the aim to understand the effect of aggregation of these metabolites on the toxicities ...
Monisha, Patel +6 more
core +1 more source
The Polymerization of Homogentisic Acid In Vitro as a Model for Pyomelanin Formation [PDF]
, 2022 Melanins are a class of biopolymers that are widespread in nature, with diverse origins, compositions, and functions, and their chemical and optoelectronic properties render them potentially useful for application in materials science for various ...
Taylor, Adam +36 more
core +3 more sources
Bilateral Breast Ochronosis: a Case Report
JPRAS Open, 2021 : Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues.
Fatema A.J. AbdulKarim +3 more
doaj +1 more source
Identification and characterization of BAHD hydroxycinnamoyltransferases in the fern Neoblechnum brasiliense. [PDF]
Plant JSignificance Statement Nine BAHD acyltransferases have been identified and characterized in the fern Neoblechnum brasiliense transferring hydroxycinnamoyl units onto various alcohol and amine acceptor substrates. Kinetic characterization showed that shikimic and quinic acids for ester formation as well as 3‐hydroxyanthranilic acid and tryptamine for ...
Ufland M, Petersen M.
europepmc +2 more sources
Alkaptonuria - Case report [PDF]
Anais Brasileiros de Dermatologia, 2014 Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues.
Fernanda Helena Craide +5 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