Results 21 to 30 of about 968 (157)

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 ...
Anibh Martin Das
exaly   +2 more sources

Clinical Images: Stubborn low back pain under the eyes [PDF]

ACR Open Rheumatol
ACR Open Rheumatology, Volume 7, Issue 7, July 2025.
William Gil, Martin Soubrier
wiley   +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

Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria

Metabolites, 2022
Changes in the phenylalanine (PHE)/tyrosine (TYR) pathway metabolites before and during homogentisic acid (HGA)-lowering by nitisinone in the Suitability of Nitisinone in Alkaptonuria (AKU) 2 (SONIA 2) study enabled the magnitude of the flux in the ...
Lakshminarayan R. Ranganath, Andrew T. Hughes, Andrew S. Davison, Milad Khedr, Richard Imrich, Mattias Rudebeck, Birgitta Olsson, Brendan P. Norman, George Bou-Gharios, James A. Gallagher, Anna M. Milan   +10 more
doaj   +1 more source

Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria

JIMD Reports, 2022
In an open‐label, controlled study of nitisinone in alkaptonuria (SONIA 2), patients were advised to lower dietary protein intake to reduce serum tyrosine (s‐Tyr) levels and the risk of keratopathy.
Birgitta Olsson, Lakshminarayan Ranganath, Jean‐Baptiste Arnoux, Richard Imrich, Anna Milan, Mattias Rudebeck   +5 more
doaj   +1 more source

Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria

Metabolites, 2022
Metabolomic analyses in alkaptonuria (AKU) have recently revealed alternative pathways in phenylalanine-tyrosine (phe-tyr) metabolism from biotransformation of homogentisic acid (HGA), the active molecule in this disease.
Brendan P. Norman, Andrew S. Davison, Bryony Hickton, Gordon A. Ross, Anna M. Milan, Andrew T. Hughes, Peter J. M. Wilson, Hazel Sutherland, Juliette H. Hughes, Norman B. Roberts, George Bou-Gharios, James A. Gallagher, Lakshminarayan R. Ranganath   +12 more
doaj   +1 more source

Nutritional interventions for patients with alkaptonuria: A minireview

Endocrine Regulations, 2023
Alkaptonuria (AKU, OMIM, No. 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent ...
Imrich Richard, Zatkova Andrea, Lukacova Olga, Sedlakova Jana, Zanova Elizabeth, Vlcek Miroslav, Penesova Adela, Radikova Zofia, Havranova Andrea, Ranganath Lakshminarayan   +9 more
doaj   +1 more source

Type 1 tyrosinemia in Finland: a nationwide study

Orphanet Journal of Rare Diseases, 2020
Background Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure.
Linnea Äärelä, Pauliina Hiltunen, Tea Soini, Nina Vuorela, Heini Huhtala, Pasi I. Nevalainen, Markku Heikinheimo, Laura Kivelä, Kalle Kurppa   +8 more
doaj   +1 more source

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, Mohammed Salem Alsbou, Mahmoud Hussein Alkhasawneh, Hani Mosleh Al-Shagahin   +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, 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