Increased prevalence of Parkinson's disease in alkaptonuria
JIMD Reports, Volume 64, Issue 4, Page 282-292, July 2023., 2023 Amongst a cohort of 88 alkaptonuria (AKU) patients attending the United Kingdom National Alkaptonuria Centre (NAC), four unrelated patients had co‐existing Parkinson's disease (PD).
L. Ranganath +8 more
semanticscholar +2 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
mCSM-lig: quantifying the effects of mutations on protein-small molecule affinity in genetic disease and emergence of drug resistance. [PDF]
, 2016 The ability to predict how a mutation affects ligand binding is an essential step in understanding, anticipating and improving the design of new treatments for drug resistance, and in understanding genetic diseases.
Ascher, David B +2 more
core +7 more sources
Alkaptonuuriast põhjustatud aordiklapi kitsenemus, südame pärgarteri haigus, teisene osteoartroos ja nende kirurgiline ravi [PDF]
, 2013 Alkaptonuuria on haruldane, progresseeruv ja pöördumatu geneetiline ainevahetushaigus. Klassikalise kliinilise triaadina esinevad selle korral homogentisiinhappe eritus uriiniga, sidekoe (eriti kõhrkoe) pigmentatsioon ning degeneratiivne liigesepõletik ...
Jõeste, Enn +5 more
core +2 more sources
Ophthalmological Manifestations of Alkaptonuria
Oftalʹmologiâ, 2022 Alkaptonuria is rare autosomal recessive multisystem disease, caused by mutations in the homogentisine oxidase gene, which leads to the deposition of metabolites of homogentisic acid in organs and tissues (ochronosis).The purpose: to study spectrum of ...
E. V. Denisova, A. V. Kuzin
doaj +1 more source
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice. [PDF]
, 2015 Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine.
A Schulz +10 more
core +1 more source
Cureus, 2023 Alkaptonuria (AKU) is a rare hereditary disorder of tyrosine degradation. The disorder is characterized by the accumulation of a pigment called homogentisic acid. Its accumulation can lead to the breakdown of connective tissue, including tendons.
J. S. Lazaro +2 more
semanticscholar +1 more source
Neurology International, 2017 Alkaptonuria is a rare metabolic disease characterised by accumulative deposition of homogentisic acid in the connective tissue of the body. This results in early degeneration of tendons, cartilages, heart valves, and other tissues. The main objective of
Omar Alrawashdeh +3 more
doaj +1 more source
Alkaptonuria Diagnosis Following a Discectomy: A Case Report
Cureus, 2023 Alkaptonuria is a rare genetic disorder characterized by the excessive production of homogentisic acid, leading to the formation and deposition of pigment polymers throughout the body.
Fahad H. Alhelal +7 more
semanticscholar +1 more source
In silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activity. [PDF]
, 2016 Despite interest in associating polymorphisms with clinical or experimental phenotypes, functional interpretation of mutation data has lagged behind generation of data from modern high-throughput techniques and the accurate prediction of the molecular ...
Ascher, David B +3 more
core +9 more sources