Results 11 to 20 of about 1,688 (193)

Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone

RMD Open, 2022
Objectives Ochronotic spondyloarthropathy represents one of the main clinical manifestations of alkaptonuria (AKU); however, prospective data and description of the effect of nitisinone treatment are lacking.Methods Patients with AKU aged 25 years or ...
Lakshminarayan R Ranganath, Milad Khedr, Jean-Baptiste Arnoux, Jozef Rovensky, Richard Jackson, Vanda Mlynarikova, Helen Bygott, Birgitta Olsson, Mattias Rudebeck, Andrea Zatkova, Richard Imrich, Olga Lukacova, Jana Sedlakova, Mária Úlehlová, Matthew Gornall, James Gallagher, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Emily Luangrath   +19 more
doaj   +3 more sources

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, AE Garrod, AJ Preston, AM Taylor, BN Du La, C Bory, C Phornphutkul, L Tinti, PJ McKiernan, SS Glasson, WJ Introne   +10 more
core   +4 more sources

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience

JIMD Reports
Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood ...
Anne‐Sophie Adam, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne deLaet   +7 more
doaj   +2 more sources

Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism [PDF]

Genes and Diseases, 2022
Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the ...
Brendan P. Norman, Andrew S. Davison, Juliette H. Hughes, Hazel Sutherland, Peter JM. Wilson, Neil G. Berry, Andrew T. Hughes, Anna M. Milan, Jonathan C. Jarvis, Norman B. Roberts, Lakshminarayan R. Ranganath, George Bou-Gharios, James A. Gallagher   +12 more
doaj   +4 more sources

Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria [PDF]

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. M. Milan, A. T. Hughes, A. S. Davison, Khedr M, B. P. Norman, G. Bou-Gharios, J. A. Gallagher, R. Imrich, J. B. Arnoux, M. Rudebeck, B. Olsson   +11 more
doaj   +3 more sources

Vitiligo, alkaptonuria, and nitisinone—A report of three families and review of the literature [PDF]

JIMD Reports, 2021
Four patients, from three families, with alkaptonuria receiving 4‐hydroxyphenylpyruvate dioxygenase‐inhibiting nitisinone therapy, which lowers homogentisic acid and increases tyrosine, developed vitiligo.
Lakshminarayan Ranganath, Milad Khedr, Leanne A. Evans, Helen Bygott, Emily Luangrath, Elizabeth West   +5 more
doaj   +3 more sources

Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty [PDF]

Molecular Genetics and Metabolism Reports
Background: Increased homogentisic acid (HGA) in alkaptonuria (AKU) causes severe arthritis. Nitisinone reduces the production of HGA, but whether it also decreases arthroplasty was examined in 237 AKU patients.
L.R. Ranganath, M. Khedr, B.P. Norman, J.H. Hughes, R. Imrich, J.B. Arnoux, B. Olsson, M. Rudebeck, J.A. Gallagher, G. Bou-Gharios   +9 more
doaj   +2 more sources

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes [PDF]

Orphanet Journal of Rare Diseases
The third known case in the country of Tyrosinemia type 1 is presented, a 10-month-old male infant who was referred to the emergency room due to hepatomegaly, compromised liver function, neurological deterioration, and abnormal urinary amino acids ...
Michael Vallejo, Valentina Villarreal, María Alejandra Guardiola, William Bachiller, Malory Moreno, Pedro Vargas, Lyssethe Juliana López   +6 more
doaj   +2 more sources

Dietary methionine restriction started late in life promotes healthy aging in a sex-specific manner [PDF]

Sci Adv
Aging is associated with dysregulated methionine metabolism and increased levels of enzymes in the tyrosine degradation pathway (TDP). To investigate the efficacy of targeting either methionine metabolism or the TDP for healthspan improvement in advanced
Al Hammood, Farazdaq, Albalawy, Wafaa N, Alder, Jonathan K, Brooke, Robert T, Chuan, Byron, Cooke, Diana, Diedrich, Jolene K, Elshorbagy, Amany, Flores, Lisa C, Frahm, Krystle A, Gonzalez, Tiffany Fuentes, Graham, Aidan, Hartman, Hannah L, Hernández-Arciga, Ulalume, Little, Gabriela J, McMahon, Brenda, Naikwadi, Maitreyi U, Nicoletti, Chiara, Pinto, Antonio F M, Sipula, Ian J, Smarz, Christian, Stamenkovic, Ceda, Vandevender, Amber M, Williams, Sean-Paul G, Yadav, Shweta   +24 more
core   +3 more sources

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)

The Application of Clinical Genetics, 2017
Anibh Martin Das Department of Pediatrics, Hannover Medical School, Hannover, Germany Abstract: Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product ...
Das AM
doaj   +2 more sources