Results 11 to 20 of about 3,205 (146)

Case report: ADHD and prognosis in tyrosinemia type 1 [PDF]

Frontiers in Psychiatry, 2023
Neurometabolic disorders such as tyrosinemia type 1 (TYRSN1) may interfere with brain metabolism and show symptoms of attention-deficit hyperactivity disorder (ADHD) in patients treated with the enzyme inhibitor nitisinone [2-(2-nitro-4 ...
Helene Barone, Jan An Haavik
exaly   +8 more sources

Treatment adherence in tyrosinemia type 1 patients. [PDF]

Orphanet J Rare Dis, 2021
Background While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinical outcome.
González-Lamuño D, Sánchez-Pintos P, Andrade F, Couce ML, Aldámiz-Echevarría L.   +4 more
europepmc   +6 more sources

Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study. [PDF]

Int J Pediatr, 2021
Background. Hereditary tyrosinemia type 1 (HT1) is a recessively inherited inborn error of metabolism affecting the final step of tyrosine catabolism. The accumulation of tyrosine toxic metabolites leads to progressive hepatic, renal, and neurological ...
Megdadi NA, Almigdad AK, Alakil MO, Alqiam SM, Rababah SG, Dwiari MA.   +5 more
europepmc   +5 more sources

Outcome of Tyrosinemia Type 1 in Indian Children [PDF]

Journal of Clinical and Experimental Hepatology, 2021
The objective of this study was to determine the outcome of children with tyrosinemia type 1 from India.A retrospective observational study was conducted on 11 patients diagnosed with type I tyrosinemia under our care. Age at symptoms, age at diagnosis, age at starting 2-nitro-4-trifluoromethylbenzoyl-1,3-cyclohexanedione (NTBC), duration between ...
Naman S Shetty Mbbs
exaly   +5 more sources

Progress in Gene Therapy for Hereditary Tyrosinemia Type 1. [PDF]

Pharmaceutics
Hereditary Tyrosinemia Type-1 (HT1), an inherited error of metabolism caused by a mutation in the fumarylacetoacetate hydrolase gene, is associated with liver disease, severe morbidity, and early mortality.
Thomas H, Carlisle RC.
europepmc   +4 more sources

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric Experience. [PDF]

JIMD Rep
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 ...
Adam AS, Marcélis L, Fage D, Mathieu E, Empain A, Dufour C, Cotton F, de Laet C.   +7 more
europepmc   +3 more sources

Severe neurological crisis in adult patients with Tyrosinemia type 1. [PDF]

Ann Clin Transl Neurol, 2020
We report six adult patients with Tyrosinaemia type 1 (HT‐1) who presented with recurrent porphyria‐like neurological crises after discontinuation/interruption of 2‐(2‐nitro‐4‐trifluoro‐methylbenzyol)‐1,3 cyclohexanedione (NTBC) treatment.
Dawson C, Ramachandran R, Safdar S, Murphy E, Swayne O, Katz J, Newsome PN, Geberhiwot T, Geberhiwot T.   +8 more
europepmc   +5 more sources

Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. [PDF]

Int J Neonatal Screen
In The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and a false-negative (FN) case show that the Dutch TT1 NBS protocol is ...
Kuypers AM, Bouva MJ, Loeber JG, Boelen A, Dekkers E, Petritis K, Pickens CA, The Isns Representatives, van Spronsen FJ, Heiner-Fokkema MR.   +9 more
europepmc   +6 more sources

Type 1 tyrosinemia in Finland: a nationwide study [PDF]

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   +6 more sources

Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias. [PDF]

JIMD Rep
ABSTRACT Tyrosinemia type 1 (HT1), due to deficient activity of fumarylacetoacetate hydrolase, causes accumulation of succinylacetone (SA). SA concentrations in urine and plasma of untreated HT1 patients are typically several thousand‐fold higher than normal, hence are readily recognized by traditional diagnostic methods in most cases.
Cyr D, Maranda B, Waters PJ.
europepmc   +2 more sources