Results 161 to 170 of about 4,051 (207)

Alkaptonuria

The Indian Journal of Pediatrics, 1958
A case of alkaptonuria with pigmented gums in an Indian child of five and a half years of age is presented. Our aim in presenting this case is to draw attention to this rare inborn metabolic error particularly because the presenting complaints may be almost negligible; to assess properly the significance of a positive reduction test whenever urine is ...
S, VAISHNAVA, B M, PULIMOOD
openaire   +2 more sources

Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype correlations in the Rare Genetic Disease Alkaptonuria.

Current protein and peptide science, 2023
Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic acid (HGA) in organs, which occurs because the homogentisate 1,2-dioxygenase (HGD) enzyme is not functional due to gene variants.
A. Santucci, A. Bernini, O. Spiga
semanticscholar   +1 more source

Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii).

Molecular Genetics and Metabolism, 2023
A 6-yr-old female orangutan presented with a history of dark urine that turned brown upon standing since birth. Repeated routine urinalysis and urine culture were unremarkable.
Me. Fayette, Kevin T A Booth, T. Lynnes, Carolina Luna, David J. Minich, Theodore E. Wilson, Marcus J. Miller   +6 more
semanticscholar   +1 more source

Efficacy and safety of Nitisinone for patients with alkaptonuria: A systematic review with metanalysis.

Molecular Genetics and Metabolism
AIM We conducted a systematic review to assess the efficacy and safety of nitisinone for the treatment of patients with alkaptonuria (AKU). METHODS Randomized clinical trials that assessed the impact of nitisinone on urinary and serum homogentisic acid
Flávia Diniz Mayrink, G. Dorneles, I. D. da Silva, C. A. Areda   +3 more
semanticscholar   +1 more source

Musculoskeletal Manifestations of Alkaptonuria: A Case-Based Review of Literature

Cureus
Alkaptonuria is a rare metabolic disorder caused by a mutation in the homogentisate 1,2 dioxygenase (HGD) gene, which encodes the HGD enzyme. It is inherited in an autosomal recessive pattern. This leads to the accumulation of homogentisic acid (HGA) and
Anjali K, Suresh Kumar, Bhargavi M V, Srinivasan Ramadurai, Rajkumar Mani   +4 more
semanticscholar   +1 more source

Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria.

Molecular Genetics and Metabolism, 2022
BACKGROUND Adaptations within the phenylalanine (PHE)/tyrosine (TYR) pathway during nitisinone (NIT) are not fully understood. OBJECTIVE To characterise the temporal changes in metabolic features in NIT-treated patients with alkaptonuria.
L. R. Ranganath, A. Hughes, A. Davison, M. Khedr, B. Olsson, M. Rudebeck, R. Imrich, B. Norman, George Bou-Gharios, J. Gallagher, A. Milan   +10 more
semanticscholar   +1 more source

Redefining a new frontier in alkaptonuria therapy with AI-driven drug candidate design via in-silico innovation

Zeitschrift für Naturforschung C - A Journal of Biosciences
A rare metabolic condition called alkaptonuria (AKU) is caused by a decrease in homogentisate 1,2 dioxygenase (HGO) activity due to a mutation in homogentisate dioxygenase (HGD) gene.
M. Naveed, K. Javed, T. Aziz, Ali Zafar, Mahnoor Fatima, Imran Ali, Ayaz Ali Khan, Thamer H Albekairi   +7 more
semanticscholar   +1 more source

Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial.

Molecular Genetics and Metabolism
Alkaptonuria is a rare disorder of tyrosine catabolism caused by deficiency of homogentisate 1,2-dioxygenase that leads to accumulation of homogentisic acid (HGA).
Kathryn Spears, Francis Rossignol, Monique Perry, Michael A Kayser, P. Suwannarat, Kevin O'Brien, Joy C Bryant, W. Greenwood, Steve Fuller, William A Gahl, W. Introne   +10 more
semanticscholar   +1 more source

Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.

The Lancet Diabetes and Endocrinology, 2020
BACKGROUND Alkaptonuria is a rare, genetic, multisystem disease characterised by the accumulation of homogentisic acid (HGA). No HGA-lowering therapy has been approved to date.
L. Ranganath, E. Psarelli, J. Arnoux, D. Braconi, M. Briggs, A. Bröijersén, N. Loftus, H. Bygott, T. Cox, A. Davison, J. Dillon, M. Fisher, R. Fitzgerald, F. Genovese, H. Glasová, A. Hall, A. Hughes, J. Hughes, R. Imrich, J. Jarvis, M. Khedr, Dinny Laan, K. Le Quan Sang, E. Luangrath, O. Lukáčová, A. Milan, A. Mistry, V. Mlynáriková, B. Norman, B. Olsson, N. Rhodes, J. Rovenský, M. Rudebeck, A. Santucci, Ella Shweihdi, Ciarán Scott, J. Sedlakova, Nicolas Sireau, R. Stančík, J. Szamosi, Sophie Taylor, C. van Kan, S. Vinjamuri, E. Vrtíková, C. Webb, E. West, E. Záňová, A. Zaťková, J. Gallagher   +48 more
semanticscholar   +1 more source

Alkaptonuria

Dermatology, 1999
[No abstract available]
CARLESIMO, Marta, P. Bonaccorsi, G. Tamburrano, I. Carboni, A. Parisi, CALVIERI, Stefano   +5 more
openaire   +3 more sources