Results 101 to 110 of about 1,688 (193)

Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis [PDF]

, 2019
Hereditary tyrosinemia Type 1 (HT‐1) is a rare metabolic disease where the enzyme catalyzing the final step of tyrosine breakdown is defect, leading to accumulation of toxic metabolites.
Barone, Helene, Bliksrud, Yngve Thomas, Elgen, Irene Bircow, Ghorbani, Sadaf, Haavik, Jan, Hansen, Eirik Vangsøy, Kleppe, Rune, Szigetvari, Peter Daniel   +7 more
core   +1 more source

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet

Molecular Genetics and Metabolism Reports, 2017
Introduction: Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway.
María Ignacia García, Alicia de la Parra, Carolina Arias, Miguel Arredondo, Juan Francisco Cabello   +4 more
doaj   +1 more source

Sequential tendon ruptures in ochronosis: case report [PDF]

, 2017
Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. Homogentisic acid (HGA) and its metabolites accumulate in
Kumar, E. G. Mohan, Kumar, G. M. Yathisha   +1 more
core   +2 more sources

A clinical case of late diagnosis of a chronic type I tyrosinemia

Consilium Medicum
Tyrosinemia type 1 is a genetic disease mainly of the first months and years of life caused by a violation of normal tyrosine catabolism with the formation of final toxic metabolites that have a direct damaging effect on the liver and kidneys with the ...
Natalia V. Chebotareva, Elvira D. Stafeeva, Olga А. Li, Agunda M. Kuchieva, Svetlana I. Polyakova, Jamal T. Abdurakhmanov, Sergey V. Moiseev   +6 more
doaj   +1 more source

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Journal of Pediatric Research, 2018
Aim:The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these ...
Havva Yazıcı, Esra Er, Ebru Canda, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker   +5 more
doaj   +1 more source

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

Molecular Genetics and Metabolism Reports, 2018
Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700).
Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell   +9 more
doaj   +1 more source

Recommendations for the management of tyrosinaemia type 1

Orphanet Journal of Rare Diseases, 2013
The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been revolutionised by the introduction of nitisinone but dietary treatment remains essential and the management is not easy.
de Laet Corinne, Dionisi-Vici Carlo, Leonard James V, McKiernan Patrick, Mitchell Grant, Monti Lidia, de Baulny Hélène Ogier, Pintos-Morell Guillem, Spiekerkötter Ute   +8 more
doaj   +1 more source

A simple RP-HPLC method for determination of nitisinone in pharmaceuticals

Macedonian Pharmaceutical Bulletin, 2019
Nitisinone is a reversible inhibitor of 4-hydroxyphenylpyruvate dioxygenase and an active substance in the orphan drug used for the treatment of hereditary tyrosinemia type I, a rare genetic disease caused by mutations in the gene for the enzyme fumarylacetoacetase.
Zana Mustafa, Zorica Arsova-Sarafinovska, Maya Shishovska, Aleksandra Grozdanova   +3 more
openaire   +1 more source

Overcome Alkaptonuria [PDF]

, 2013
Alkaptonuria (AKU) is an autosomal recessive inborn error metabolism resulting from deficiency of homogentisic acid oxidase (homogentisate 1, 2-dioxygenase) that is required in the metabolism of phenylalanine and tyrosine during the step when ...
Nelwan, Martin L.
core   +1 more source

Alkaptonuria: Current Perspectives

The Application of Clinical Genetics, 2020
Andrea Zatkova,1 Lakshminarayan Ranganath,2 Ludevit Kadasi1,3 1Department of Human Genetics, Biomedical Research Center, Slovak Academy of Sciences, Institute of Clinical and Translational Research, Bratislava, Slovakia; 2National Alkaptonuria Centre ...
Zatkova A, Ranganath L, Kadasi L
doaj