Results 41 to 50 of about 1,396 (170)
Nitisinone-Induced Keratopathy in Alkaptonuria Disease: A Case Report and Literature Review [PDF]
Journal of Clinical and Diagnostic Research, 2018 We report a case of nitisinone-induced keratopathy in a 52-year-old male patient with Alkaptonuria (AKU) disease in Jordan. The patient presented with slight drop of left eye vision for the last four weeks, associated with a foreign body sensation in his
Khalid Mousa Al Zubi +3 more
doaj +1 more source
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 +9 more
openaire +2 more sources
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
Orphan Drugs: Research and Reviews, 2017 A Cigdem Aktuglu-Zeybek, Tanyel Zubarioglu Department of Pediatrics, Division of Nutrition and Metabolism, Cerrahpasa Medical Faculty, Istanbul University, Kocamustafapasa Fatih, Istanbul, Turkey Abstract: Nitisinone (2-[2-nitro-4-trifluoromethylbenzoyl]cyclohexane-1,3-dione), an effective triketone herbicide, is a potent inhibitor of
Zeybek,Cigdem Aktuglu, Zubarioglu,Tanyel
openaire +4 more sources
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
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 +5 more
doaj +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
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 +5 more
doaj +1 more source
Nitisinone Treatment Affects Biomarkers of Bone and Cartilage Remodelling in Alkaptonuria Patients
, 2023 Nitisinone has been approved for treatment of alkaptonuria (AKU). Non-invasive biomarkers of joint tissue remodelling could aid in understanding the molecular changes in AKU pathogenesis and how these can be affected by treatment. Serological and urinary
Peder Frederiksen +8 more
core +1 more source
Frontiers in Pediatrics, 2021 Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities.
Karim N. Daou +5 more
doaj +1 more source