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Targeted and untargeted urinary metabolomics of alkaptonuria patients using ultra high-performance liquid chromatography-tandem mass spectrometry.
J Pharm Biomed Anal
January 2025
Institute of Pharmaceutical Sciences, Pharmaceutical (Bio-)Analysis, University of Tübingen, Auf der Morgenstelle 8, Tübingen 72076, Germany. Electronic address:
Alkaptonuria (AKU) is a rare autosomal-recessive disease which is characterized through black urine and ochronosis. It is caused by deficiency of the enzyme Homogentisate 1,2-dioxygenase in the Phenylalanine/Tyrosine degradation pathway which leads to the accumulation of Homogentisic acid (HGA). Urine was provided by AKU patients and healthy controls.
View Article and Find Full Text PDFExploring the Osteoinductive Potential of Bacterial Pyomelanin Derived from in a Human Osteoblast Model.
Int J Mol Sci
December 2024
Department of Immunology and Infectious Biology, Faculty of Biology and Environmental Protection, University of Lodz, 12/16 Banacha St, 90-237 Łódź, Poland.
Alkaptonuria (AKU) is a genetically determined disease associated with disorders of tyrosine metabolism. In AKU, the deposition of homogentisic acid polymers contributes to the pathological ossification of cartilage tissue. The controlled use of biomimetics similar to deposits observed in cartilage during AKU potentially may serve the development of new bone regeneration therapy based on the activation of osteoblasts.
View Article and Find Full Text PDFA case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference.
Biochem Med (Zagreb)
October 2024
Clinical Department of Laboratory Medicine, UZ Leuven, Leuven, Belgium.
Alkaptonuria is characterized by the accumulation of homogentisic acid which causes dark coloration of urine upon standing, ochronosis, and arthritis. A 4-year old child was referred to our pediatric nephrologist with hyperoxaluria and a history of unexplained pink-to-brown discolouration of his diapers associated with a brown-staining of clothes and skin since he was six months old. He had no other symptoms and his past medical history only included minor child illnesses.
View Article and Find Full Text PDFA heart so black: a case of alkaptonuric ochronosis of the aortic and mitral valves in a female patient with severe aortic valve stenosis and coronary artery disease.
J Surg Case Rep
October 2024
Cardiac Innovation Center, Apollonion Hospital, Lefkotheou 20, Nicosia, Nicosia 2054, Cyprus.
Article Synopsis
- Alkaptonuric ochronosis is a condition caused by the buildup of homogentisic acid in body tissues, often associated with the rare genetic disorder alkaptonuria due to a specific enzyme deficiency.
- A case report describes a 64-year-old woman with serious heart issues who exhibited ochronotic pigmentation in her heart valves and surrounding structures, highlighting the condition's impact on cardiovascular health.
- This case underscores the importance of considering ochronosis as a potential factor in diagnosing valvular diseases even when a patient hasn’t been previously diagnosed with alkaptonuria.
An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.
J Cell Physiol
December 2024
Dipartimento di Biotecnologie, Chimica e Farmacia, Università di Siena, Siena, Italy.
Article Synopsis
- Alkaptonuria (AKU) is a hereditary metabolic disorder that primarily affects cartilage, leading to early osteoarthritis due to a process called ochronosis.
- Researchers faced challenges in studying AKU using human chondrocytes but overcame this by creating an in vitro model using immortalized C20/A4 cells treated with homogentisic acid (HGA), mimicking AKU conditions.
- This model revealed important insights, including oxidative stress and inflammatory responses linked to AKU, as well as potential amyloid fibril formation, highlighting its usefulness for understanding the disease and aiding in drug development.
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