Results 91 to 100 of about 4,051 (207)

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

OA13 Alkaptonuria: a big mimic

Rheumatology
Alkaptonuria is a rare metabolic disorder, often misdiagnosed as spondyloarthritis or degenerative musculoskeletal disease. The population most affected are young males in their 30s with characteristic arthritis involving the spine and large joints.
Meera Shah, Sundeep Kumar Upadhyaya
semanticscholar   +1 more source

Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria

Scientific Reports, 2022
Nitisinone (NIT) produces inevitable but varying degree of tyrosinaemia. However, the understanding of the dynamic adaptive relationships within the tyrosine catabolic pathway has not been investigated fully.
L. R. Ranganath, A. Milan, A. Hughes, A. Davison, K. M., B. Norman, George Bou-Gharios, J. Gallagher, R. Imrich, J. Arnoux, M. Rudebeck, B. Olsson   +11 more
semanticscholar   +1 more source

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +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

Mutations at protein-protein interfaces: Small changes over big surfaces have large impacts on human health. [PDF]

, 2017
Many essential biological processes including cell regulation and signalling are mediated through the assembly of protein complexes. Changes to protein-protein interaction (PPI) interfaces can affect the formation of multiprotein complexes, and ...
Ascher, David B, Blundell, Tom L, Jubb, Harry C, Ochoa-Montaño, Bernardo, Pandurangan, Arun P, Turner, Meghan A   +5 more
core   +1 more source

An Enigmatic Color Change of Urine: Alkaptonuria: Alkaptonuria [PDF]

, 2023
Alkaptonuria is an exceedingly rare tyrosine metabolism disorder of autosomal recessiveinheritance. Only a few instances of it have been observed in Bangladeshi children.
Majumder, Rita, Qader, Abdul, Rashid, Ismail, Rumana, Jubaida, Shahidullah, Shabnam, Sultana, Azmeri   +5 more
core   +2 more sources

Bilateral Spontaneous Rupture of the Achilles Tendon as an Initial Presentation of Alkaptonuria: A Case Report

Journal of Clinical and Diagnostic Research
Rupture of the Achilles tendon is a common occurrence in the athletic population with a history of injury; however, a complete rupture of both Achilles tendons is uncommon. Spontaneous rupture of the bilateral Achilles tendons is an even rarer phenomenon,
Sundara Raja Perumal, K. Anand
semanticscholar   +1 more source

A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria

Scientific Reports, 2022
Alkaptonuria (AKU) is a rare inborn error of metabolism caused by a defective homogentisate 1,2-dioxygenase (HGD), an enzyme involved in the tyrosine degradation pathway.
Sien Lequeue, Jessie Neuckermans, Ine Nulmans, U. Schwaneberg, T. Vanhaecke, J. De Kock   +5 more
semanticscholar   +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