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
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 +13 more
core +4 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
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
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
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
, 2010 Alkaptonuria (AKU) is a rare genetic disease associated with the accumulation of homogentisic acid (HGA) and its oxidized/polymerized products in connective tissues up to the deposition of melanin-like pigments (ochronosis).
Braconi, Daniela +7 more
core +5 more sources
Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria. [PDF]
PLoS ONE, 2014 BACKGROUND: Alkaptonuria, caused by a deficiency of homogentisate 1,2-dioxygenase, results in the accumulation of homogentisic acid (2,5-dihydroxyphenylacetic acid, HGA) in the urine.
Yasunori Tokuhara +16 more
doaj +1 more source
Knee osteoarthrosis secondary to ochronosis -clinical case,
Revista Brasileira de Ortopedia, 2014 Alkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygenase causes an accumulation of homogentisic acid. Ochronosis consists of excessive deposition of homogentisic acid in the connective tissue and presents as ...
Andreia Maria da Silva Martins Ferreira +5 more
doaj +1 more source