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 +2 more
doaj +1 more source
A role for interleukins in ochronosis in a chondrocyte in vitro model of alkaptonuria [PDF]
, 2016 Objectives Alkaptonuria is a rare autosomal recessive condition resulting from inability to breakdown homogentisic acid (HGA); an intermediate in tyrosine degradation.
Bukhari, Marwan +3 more
core +1 more source
Adequacy of nitisinone for the management of alkaptonuria
Annals of Medicine & Surgery, 2022 Alkaptonuria is a rare hereditary disease with a defective enzyme that results in increased homogentisic acid levels in the body. Homogentisic acid accumulates in multiple body parts and initializes tissue damage. Clinical manifestations such as pigmentation of the skin areas and joint destruction result in ochronosis.
Abbas, Khawar +2 more
openaire +2 more sources
Metabolic Effects of Acute Thiamine Depletion Are Reversed by Rapamycin in Breast and Leukemia Cells [PDF]
, 2014 Thiamine-dependent enzymes (TDEs) control metabolic pathways that are frequently altered in cancer and therefore present cancer-relevant targets. We have previously shown that the recombinant enzyme thiaminase cleaves and depletes intracellular thiamine,
A Daily +23 more
core +8 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 ...
Pim, Suwannarat +9 more
openaire +2 more sources
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 +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 +3 more
doaj +1 more source
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. [PDF]
, 2016 BACKGROUND: Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy is being investigated for AKU.
Andrea Zatkova +51 more
core +1 more source
, 2013 Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA).
Bukhari, Marwan +2 more
core +1 more source
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 +7 more
doaj +1 more source