Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Abstract Background Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1). However, neurocognitive outcome is suboptimal. This study aimed to investig...

Full description

Bibliographic Details
Main Authors:	Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Format:	Article
Language:	English
Published:	BMC 2019-12-01
Series:	Orphanet Journal of Rare Diseases
Subjects:	Tyrosinemia type 1 Behavior problems Health related-quality of life Phenylalanine Tyrosine
Online Access:	https://doi.org/10.1186/s13023-019-1259-2

Similar Items

NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers
by: Karen Fuenzalida, et al.
Published: (2021-12-01)

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone
by: Allysa M. Dijkstra, et al.
Published: (2023-12-01)

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening
by: Jessica R. C. Priestley, et al.
Published: (2020-05-01)

Richner-Hanhart Syndrome (Tyrosinemia Type II) A Case Report of Delay Diagnosis with Hyperkeratotic Lesions of Palmes and Soles
by: Zahra Alian
Published: (2014-12-01)

Treatment adherence in tyrosinemia type 1 patients
by: Domingo González-Lamuño, et al.
Published: (2021-06-01)

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I
by: Habibe Koç Uçar, et al.
Published: (2016-06-01)

Tyrosinemia type III in an asymptomatic girl
by: Edyta Szymanska, et al.
Published: (2015-12-01)

Type 1 tyrosinemia in Finland: a nationwide study
by: Linnea Äärelä, et al.
Published: (2020-10-01)

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I
by: Jon Gil-Martínez, et al.
Published: (2021-02-01)

Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation
by: Seyed Mohsen Dehghani, et al.
Published: (2013-01-01)

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)
by: Das AM
Published: (2017-07-01)

In vivo quantitative photoacoustic evaluation of the liver and kidney pathology in tyrosinemia
by: Guojia Huang, et al.
Published: (2022-12-01)

Evaluation of a New ‘Mix-In’ Style Glycomacropeptide-Based Protein Substitute for Food and Drinks in Patients with Phenylketonuria and Tyrosinemia
by: Marta Delsoglio, et al.
Published: (2023-08-01)

A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation
by: Reza Najafi, et al.
Published: (2018-01-01)

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW
by: Fábio Barroso, et al.

Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
by: Havva Yazıcı, et al.
Published: (2018-03-01)

Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I
by: Anne Daly, et al.
Published: (2021-09-01)

Tyrosinemia type I: an unusual case presentation
by: Marwa ALMahroos, et al.
Published: (2022-06-01)

The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
by: Zahra Beyzaei, et al.
Published: (2022-12-01)

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey
by: Havva Yazıcı, et al.
Published: (2018-03-01)

Design of Polymerase Chain Reaction Initiators and Their Function to Identify FAH Mutations in Type I Tyrosinemia
by: A Keshtkari, et al.
Published: (2019-11-01)

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet
by: María Ignacia García, et al.
Published: (2017-06-01)

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype
by: Jessie Neuckermans, et al.
Published: (2023-03-01)

A child with dendritiform eye lesions and developmental delay
by: Vasiliki Gliagias, MD, et al.
Published: (2022-12-01)

Persistent cutaneous lesion in a child with tyrosinemia: Esomeprazole‐induced lichenoid drug eruptions
by: Bahareh Abtahi‐Naeini, et al.
Published: (2021-08-01)

Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature
by: Somesh Singh, et al.
Published: (2020-05-01)

Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation
by: Haaike Colemonts-Vroninks, et al.
Published: (2020-12-01)

Case report: ADHD and prognosis in tyrosinemia type 1
by: Helene Barone, et al.
Published: (2023-07-01)

Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy
by: Berrak Bilginer Gürbüz, et al.
Published: (2021-12-01)

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood
by: Rūta Rokaitė, et al.
Published: (2024-01-01)

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review
by: Julia Geppert, et al.
Published: (2017-09-01)

Cirrose hepática e hemocromatose neonatal secundária associadas à tirosinemia tipo 1: relato de um caso e diagnóstico diferencial com hemocromatose primária hereditária Liver cirrhosis and secondary neonatal haemochromatosis associated to type 1 tyrosinemia: case report and differential diagnosis with hereditary haemochromatosis
by: Ana Paula Camargo Martins, et al.
Published: (2006-04-01)

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening
by: Hela Hajji, et al.
Published: (2022-12-01)

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model
by: Maximiliano L. Cacicedo, et al.
Published: (2022-09-01)

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1
by: Jiao Chen, et al.
Published: (2022-12-01)

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.
by: Willem G van Ginkel, et al.
Published: (2017-01-01)

Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder
by: Davoud Amirkashani, et al.
Published: (2024-06-01)

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)
by: Huan Chi, et al.
Published: (2023-01-01)

CIRROSIS HEPATICA EN LACTANTE: UNA FORMA DE PRESENTACION DE LA TIROSINEMIA
by: Rodolfo Mardones R, et al.
Published: (2002-01-01)

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles
by: Hao Yang, et al.
Published: (2018-03-01)