Results 61 to 70 of about 2,793 (181)

Extensive prostatic calculi in alkaptonuria: An unusual manifestation of rare disease

Asian Journal of Urology, 2015
Extensive prostatic calculi in a young man should always elicit the suspicion of alkaptonuria. Although prostatic calculi are seen in chronic prostatitis, chronic pelvic pain syndrome and benign prostate hyperplasia, none of these have prostatic calculi ...
Gaurav Sali, Appu Thomas, Ginil Kumar, Balagopalan Nair, Kalvampara Sanjeevan, Georgie Mathew, Kannan Nair   +6 more
doaj   +1 more source

An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone

Journal of Anatomy, Volume 246, Issue 6, Page 1053-1074, June 2025.
Examination of an alkaptonuria body highlights the susceptibility of all cartilage types and associated perichondrium to ochronotic pigmentation and the heterogeneity of ochronotic pigment distribution both within and between tissues. In joints, calcified cartilage pigments before non‐calcified cartilage.
Juliette H. Hughes, Gemma Charlesworth, Amanda Prior, Claire M. Tierney, Paul D. Rothwell, Neil P. Thomas, Lakshminarayan R. Ranganath, James A. Gallagher, Alistair P. Bond   +8 more
wiley   +1 more source

Nutritional interventions for patients with alkaptonuria: A minireview

Endocrine Regulations, 2023
Alkaptonuria (AKU, OMIM, No. 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent ...
Imrich Richard, Zatkova Andrea, Lukacova Olga, Sedlakova Jana, Zanova Elizabeth, Vlcek Miroslav, Penesova Adela, Radikova Zofia, Havranova Andrea, Ranganath Lakshminarayan   +9 more
doaj   +1 more source

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuria (AKU), a rare disorder that affects the spine and involves other sequelae; treatments include
Kendall A. Flaharty, Vibha Chandrasekar, Irene J. Castillo, Dat Duong, Carlos R. Ferreira, Suzanna Ledgister Hanchard, Ping Hu, Rebekah L. Waikel, Francis Rossignol, Wendy J. Introne, Benjamin D. Solomon   +10 more
wiley   +1 more source

Endogenous ochronosis with keratoelastoidosis marginalis

Indian Journal of Dermatopathology and Diagnostic Dermatology, 2019
Endogenous ochronosis is a manifestation of alkaptonuria, a rare metabolic disease due to homogentisic acid oxidase deficiency. Darkened urine and arthropathy are the other two components that complete the triad of alkaptonuria. Pigmentation of skin, the
R Mythreyi, Adikrishnan Swaminathan, Anuradha Priyadarshini, Sudha Rangarajan, S Murugan   +4 more
doaj   +1 more source

Structural Dynamics of Neutral Amino Acid Transporter SLC6A19 in Simple and Complex Lipid Bilayers

Journal of Cellular Biochemistry, Volume 126, Issue 1, January 2025.
ABSTRACT B0AT1 (SLC6A19) is a major sodium‐coupled neutral amino acid transporter that relies on angiotensin converting enzyme 2 (ACE2) or collectrin for membrane trafficking. Despite its significant role in disorders associated with amino acid metabolism, there is a deficit of comprehensive structure‐function understanding of B0AT1 in lipid ...
Budheswar Dehury, Sarbani Mishra, Sunita Panda, Mahender Kumar Singh, Nischal L. Simha, Sanghamitra Pati   +5 more
wiley   +1 more source

Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2‐dioxygenase deficiency in the liver is responsible for homogentisic acid‐derived ochronotic pigmentation

JIMD Reports, 2021
Alkaptonuria (AKU) is caused by homogentisate 1,2‐dioxygenase (HGD) deficiency. This study aimed to determine if HGD and other enzymes related to tyrosine metabolism are associated with the location of ochronotic pigment. Liver, kidney, skin, bone, brain,
Peter J. M. Wilson, Lakshminarayan R. Ranganath, George Bou‐Gharios, James A. Gallagher, Juliette H. Hughes   +4 more
doaj   +1 more source

An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria

Journal of Cellular Physiology, Volume 239, Issue 12, December 2024.
Abstract Alkaptonuria (AKU) is a progressive systemic inherited metabolic disorder primarily affecting the osteoarticular system, characterized by the degeneration of cartilage induced by ochronosis, ultimately leading to early osteoarthritis (OA).
Pierfrancesco Mastroeni, Michela Geminiani, Tommaso Olmastroni, Luisa Frusciante, Alfonso Trezza, Anna Visibelli, Annalisa Santucci   +6 more
wiley   +1 more source

Spontaneous tendon ruptures in alkaptonuria

, 2003
Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been ...
S. Rajasekaran, R. V. Manoj Kumar
core   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source