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

JIMD Reports
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 ...
Anne‐Sophie Adam, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne deLaet   +7 more
doaj   +3 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 Reports
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 ...
Denis Cyr, Bruno Maranda, Paula J. Waters   +2 more
doaj   +3 more sources

An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review [PDF]

Clinical Case Reports
Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation.
Mahsa Rouhafshari, Mohammad Hadi Imanieh, Mahdi Khazaei, Zahra Radaei, Hamide Barzegar   +4 more
doaj   +3 more sources

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker [PDF]

JIMD Reports
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life.
Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara   +9 more
doaj   +3 more sources

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

International Journal of Neonatal Screening
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 ...
Allysa M. Kuypers, Marelle J. Bouva, J. Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C. Austin Pickens, The ISNS Representatives, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema   +9 more
doaj   +4 more sources

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. [PDF]

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients.
Ballhausen, D., Das, A.M., Freisinger, P., Haas, D., Hagedorn, T., Häberle, J., Janson-Mutsaerts, C., Janzen, N., Karall, D., Lange, K., Meyer, U., Morlot, S., Mönch, E., Rosenbaum-Fabian, S., Sander, J., Scholl-Bürgi, S., Vom Dahl, S., Weinhold, N., Zeman, J.   +18 more
core   +3 more sources

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone [PDF]

International Journal of Neonatal Screening, 2023
Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as marker
Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout   +9 more
doaj   +2 more sources

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   +2 more sources

Metabolomics of a neonatal cohort from the Alliance for Maternal and Newborn Health Improvement biorepository: Effect of preanalytical variables on reference intervals. [PDF]

PLoS ONE, 2023
BackgroundThe study was conducted to determine reference interval (RI) and evaluate the effect of preanalytical variables on Dried blood spot (DBS)-amino acids, acylcarnitines and succinylacetone of neonates.MethodologyDBS samples were collected within ...
Lena Jafri, Aysha Habib Khan, Muhammad Ilyas, Imran Nisar, Javairia Khalid, Hafsa Majid, Aneeta Hotwani, Fyezah Jehan   +7 more
doaj   +2 more sources

Tyrosinaemia type Ia without excess of urinary succinylacetone [PDF]

Journal of Inherited Metabolic Disease, 1993
Tyrosinaemia type I (McKusick 276700) (Kvittingen 1991) is an autosomal recessively inherited metabolic disorder due to two enzymatic deficiencies: fumarylacetoacetase (FAH) (type Ia) and maleylacetoacetate isomerase (type Ib) (Berger et al 1988).
Biasucci, G, Giuffré, B, LA GRUTTA, Stefania, Riva, E.   +3 more
core   +5 more sources