Results 101 to 110 of about 2,341 (138)

The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1

Seminars in Liver Disease, 2001
The topic of this review is hepatorenal tyrosinemia (hereditary tyrosinemia type 1 [HT1], or fumarylacetoacetate hydrolase deficiency; OMIM# 276700). HT1 is the most serious and common of the genetic defects in tyrosine degradation. In addition, this disorder has importance as a model of spontaneous self-correction of liver disease, as a model of liver
Markus Grompe
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Early effect of NTBC on renal tubular dysfunction in hereditary tyrosinemia type 1

Molecular Genetics and Metabolism, 2014
Hereditary tyrosinemia type 1 (HT1) is characterized by severe progressive liver disease and renal tubular dysfunction. NTBC therapy has revolutionized the management of HT1 but its effect on renal tubular function has so far been poorly investigated.
A, Maiorana, M, Malamisura, F, Emma, S, Boenzi, V M, Di Ciommo, C, Dionisi-Vici   +5 more
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Decreased mitochondrial oxidative capacity in hereditary tyrosinemia type 1

Scandinavian Journal of Gastroenterology, 2005
A case of decreased mitochondrial oxidative capacity in a child with hereditary tyrosinemia type 1 is herein ...
Rigante D., Gasbarrini A., Nista E. C., Candelli M.   +3 more
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The outcome of seven patients with hereditary tyrosinemia type 1

Journal of Pediatric Endocrinology and Metabolism, 2016
AbstractBackground:Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical,
USTKOYUNCU, Pembe Soylu, KENDİRCİ, Mustafa, KARDAŞ, Fatih, GÖKAY, Songül   +3 more
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Hereditary Tyrosinemia Type 1 in Turkey

2017
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver
Ayse Cigdem, Aktuglu-Zeybek, Ertugrul, Kiykim, M Serif, Cansever   +2 more
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Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways

Biochemical and Biophysical Research Communications, 2010
Hereditary tyrosinemia type 1 is an autosomal recessive metabolic disorder, which is caused by a defective fumarylacetoacetate hydrolase enzyme, and consequently metabolites such as succinylacetone and p-hydroxyphenylpyruvate accumulate. We used a modified comet assay to determine the effect of these metabolites on base- and nucleotide excision repair ...
E, van Dyk, A, Steenkamp, G, Koekemoer, P J, Pretorius   +3 more
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Cholestasis and hypermethioninemia during dietary management of hereditary tyrosinemia type 1

The Journal of Pediatrics, 1986
with increasing age and with the presence of hypertension and arteriosclerosis. Stebbens 1~ found that aortic coarctation and polycystic renal disease were associated with an increased incidence of cerebral aneurysms and that the increase was explainable on the basis of a high incidence of hypertension in these conditions.
V Z, Ameen, G K, Powell, D K, Rassin
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Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1

2017
Inborn errors of metabolism (IEMs) are a group of diseases involving a genetic defect that alters a metabolic pathway and that presents usually during infancy. The tyrosine degradation pathway contains five enzymes, four of which being associated with IEMs.
Geneviève, Morrow, Robert M, Tanguay
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Imaging features of type 1 hereditary tyrosinemia: a review of 30 patients

Pediatric Radiology, 1996
Hereditary tyrosinemia type 1, a common genetic disorder in the province of Quebec, is characterized by a deficiency of fumarylacetoacetate hydrolase. In this autosomal recessive disorder of tyrosine metabolism, the accumulation of succinylacetone leads to neurologic crises, acute and chronic liver failure, complex renal tubulopathy, rickets and a ...
J, Dubois, L, Garel, H, Patriquin, K, Paradis, S, Forget, D, Filiatrault, A, Grignon, P, Russo, D, St-Vil   +8 more
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Hereditary tyrosinemia type 1 in Turkey: Twenty year single‐center experience

Pediatrics International, 2014
AbstractBackgroundHereditary tyrosinemia type 1(HT1) is a chronic disorder leading to severe hepatic, renal and peripheral nerve damage if left untreated. Despite nitisinone treatment HT1 still carries the risks of hepatocellular carcinoma (HCC) and neuropsychological outcome.MethodsA retrospective single center study was carried out based on the ...
A Cigdem Aktuglu, Zeybek, Ertugrul, Kiykim, Erdogan, Soyucen, Serif, Cansever, Suheyla, Altay, Tanyel, Zubarioglu, Tulay, Erkan, Ahmet, Aydin   +7 more
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