Results 1 to 10 of about 1,331 (171)

Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples [PDF]

JIMD Reports, 2020
Background Nitisinone is used to treat hereditary tyrosinemia type 1 (HT‐1) by preventing accumulation of toxic metabolites, including succinylacetone (SA). Accurate quantification of SA during newborn screening is essential, as is quantification of both
Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck   +9 more
doaj   +3 more sources

Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria [PDF]

Metabolites, 2022
Background: Nitisinone-induced hypertyrosinaemia is well documented in Alkaptonuria (AKU), and there is uncertainty over whether it may contribute to a decline in cognitive function and/or mood by altering neurotransmitter metabolism.
Andrew S. Davison, Brendan P. Norman, Hazel Sutherland, Anna M. Milan, James A. Gallagher, Jonathan C. Jarvis, Lakshminarayan R. Ranganath   +6 more
doaj   +4 more sources

Use of nitisinone in patients with alkaptonuria [PDF]

Metabolism, 2005
Alkaptonuria, a rare autosomal recessive disorder caused by mutations in the HGD gene and deficiency of homogentisate 1,2 dioxygenase, is characterized by ochronosis, arthritis, and daily excretion of gram quantities of homogentisic acid (HGA). Nitisinone, an inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, can drastically reduce urinary ...
Suwannarat, Pim, O'Brien, Kevin, Perry, Monique B., Sebring, Nancy, Bernardini, Isa, Kaiser-Kupfer, Muriel I., Rubin, Benjamin I., Tsilou, Ekaterina, Gerber, Lynn H., Gahl, William A.   +9 more
openaire   +2 more sources

Long‐term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depression

JIMD Reports, 2022
Little is documented on whether nitisinone‐induced hypertyrosinaemia alters cognitive functioning or leads to worsening depression in alkaptonuria (AKU). Wechsler Adult Intelligence Scale‐IV (WAIS‐IV) and Beck Depression Inventory‐II (BDI‐II) assessments
Andrew S. Davison, Gin Hughes, Joanne A. Harrold, Pam Clarke, Rebecca Griffin, Lakshminarayan R. Ranganath   +5 more
doaj   +1 more source

Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1

Metabolism Open, 2021
Background: Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to ...
Imad Dweikat, Nada Qawasmi, Aysha Najeeb, Mohammad Radwan   +3 more
doaj   +1 more source

Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients

JIMD Reports, 2022
Homogentisic acid (HGA) lowering, disease modifying off‐label nitisinone therapy has been used in the United Kingdom National Alkaptonuria Centre (NAC) since 2012.
Mohammad S. Z. Ahmad, Mahmoud Ahmed, Milad Khedr, Alfredo Borgia, Andrea Madden, Lakshminarayan R. Ranganath, Stephen Kaye   +6 more
doaj   +1 more source

β-Cyclodextrin Derivative Grafted on Silica Gel Represents a New Polymeric Sorbent for Extracting Nitisinone from Model Physiological Fluids

Molecules, 2021
Nitisinone (NTBC) is used in the treatment of disorders affecting the tyrosine pathway, including hereditary tyrosinemia type I, alkaptonuria, and neuroblastoma.
Magdalena Danek, Anna Korytkowska-Wałach, Hanna Barchańska   +2 more
doaj   +1 more source

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review

Orphanet Journal of Rare Diseases, 2017
Background Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved.
Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips   +7 more
doaj   +1 more source

Identification of Potential Inhibitors for the Treatment of Alkaptonuria Using an Integrated In Silico Computational Strategy

Molecules, 2023
Alkaptonuria (AKU) is a rare genetic autosomal recessive disorder characterized by elevated serum levels of homogentisic acid (HGA). In this disease, tyrosine metabolism is interrupted because of the alterations in homogentisate dioxygenase (HGD) gene ...
Sumera Zaib, Nehal Rana, Nadia Hussain, Hanan A. Ogaly, Ayed A. Dera, Imtiaz Khan   +5 more
doaj   +1 more source

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

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   +1 more source