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Different Clinic, Different Diagnosis: Tyrosinemia Type 3. [PDF]

Mol Syndromol
Basan H, Ceylaner S, Küçükcongar Yavaş A.   +2 more
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A GC/MS method for determination of succinylacetone in Arabidopsis thaliana

Analytical and Bioanalytical Chemistry, 2016
Succinylacetone was known to be a toxic metabolite of tyrosine in human and animals caused by blockage of the final step in tyrosine degradation pathway, but its existence in plant was unclear though the metabolic disturbance of tyrosine was also found in plant.
Xiaochen Wang, Chunmei Ren, Bo Qiu
exaly   +3 more sources

Evaluation of factors influencing accuracy in the analysis of succinylacetone in dried blood spots

Clinica Chimica Acta, 2012
Dried blood spots offer specific advantages over conventional blood collection methods, but with certain limitations. This article aims to evaluate factors which affect succinylacetone test in dried blood spots.Whole blood with defined hematocrit and blood volume spiked with succinylacetone was spotted on filter paper, and analyzed by liquid ...
Li Liu
exaly   +3 more sources

Determination of urinary succinylacetone by capillary electrophoresis for the diagnosis of tyrosinemia type I

Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, 2005
The presence of succinylacetone in urine or blood or amniotic fluid is pathognomonic of an inherited metabolic disorder, named tyrosinemia type I. We developed a capillary electrophoretic method for the fast analysis of succinylacetone in urine samples.
Mehmet Serif Cansever, Fatma Bedia Erim
exaly   +3 more sources

Prenatal diagnosis of hereditary tyrosinaemia: Measurement of succinylacetone in amniotic fluid

Prenatal Diagnosis, 1982
AbstractA method is proposed for prenatal diagnosis in pregnancies at risk of hereditary tryosinaemia. Affected fetuses were detected on the basis of the abnormal presence in the amniotic fluid of succinylacetone, a metabolite previously identified in sera and urines of patients suffering from hereditary tyrosinaemia.
R, Gagné, A, Lescault, A, Grenier, C, Laberge, S B, Mélançon, L, Dallaire   +5 more
exaly   +3 more sources

Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia

Analytical Biochemistry, 2005
We describe an isotope dilution liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the determination of succinylacetone (SA) in urine for the diagnosis of hepatorenal tyrosinemia (HT1). The method used 15N-labeled 5(3)-methyl-3(5)-isoxazole propionic acid as internal standard.
Zuhair Rahbeeni
exaly   +3 more sources

Effects of succinylacetone on methyl α-d-glucoside uptake by the rat renal tubule

Biochimica Et Biophysica Acta - Biomembranes, 1985
Succinylacetone, a catabolic end-product of tyrosine, is excreted in large quantities in urine from individuals with hereditary tyrosinemia and the Fanconi syndrome. Succinylacetone inhibits rat renal tubular concentrative uptake of the glucose transport analogue, methyl alpha-D-glucoside, in a noncompetitive and reversible fashion.
K S, Roth, P D, Spencer, E S, Higgins, R F, Spencer   +3 more
exaly   +3 more sources

Dietary treatment eliminates succinylacetone from the urine of a patient with tyrosinaemia type 1

European Journal of Pediatrics, 1990
Over an 18-month period serial observations of plasma tyrosine, methionine and urinary tyrosine metabolites were made and compared with urinary succinylacetone excretion in an infant with tyrosinaemia type 1 treated by diet alone. Despite broadly similar profiles there were significant temporal and quantitative differences between each of these ...
M D, Bain, P, Purkiss, M, Jones, P, Bingham, T E, Stacey, R A, Chalmers   +5 more
exaly   +3 more sources

Neurotoxic aspects of porphyrinopathies: Lead and succinylacetone

Environmental Research, 1982
Abstract Neurotoxic effects of heavy metals and polyhalogenated hydrocarbons frequently occur at low levels of exposure, in some cases below those levels where direct toxic actions of these compounds have been demonstrated. Since alterations in heme synthesis are effects common to many of these compounds, the potential role of altered heme synthesis ...
E K, Silbergeld, R E, Hruska, D, Bradley, J M, Lamon, B C, Frykholm   +4 more
openaire   +2 more sources