Results 161 to 170 of about 1,764 (178)

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
openaire   +2 more sources

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

Biochimica et Biophysica Acta (BBA) - 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
openaire   +2 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.
Mohamed S, Rashed, Lujane Y, Al-Ahaidib, Osama Y, Al-Dirbashi, Mohammad, Al Amoudi, Moeen M A, Al-Sayed, Zuhair, Rahbeeni, Zuhair, Al-Hassnan, Abeer, Al-Dbaas, Mohamed, Al-Owain, Michelle, Ni Luanaigh   +9 more
openaire   +2 more sources

Detecting Succinylacetone

2007
Mass spectrometry is useful for detecting and measuring a wide variety of metabolites, the presence or amount of which can be indicative of certain conditions or disorders. Thus, mass spectrometry can be used, e.g., to diagnose numerous metabolic disorders associated with altered levels of metabolites.
CERDA B, CHERKASSKIY A, LI Y, LA MARCA, GIANCARLO   +3 more
openaire   +1 more source

Chemical analysis of succinylacetone and 4‐hydroxyphenyllactate in amniotic fluid using selective ion monitoring

Prenatal Diagnosis, 1984
AbstractA method for the measurement of the concentration of succinylacetone and 4‐hydroxyphenyllactic acid in amniotic fluid was developed for the prenatal diagnosis of hereditary tyrosinemia. Succinylacetone was converted to 5‐methyl‐3‐isoxazolepropionic acid and isolated with 4‐hydroxyphenyllactic acid by liquid partition chromatography and the ...
C, Jakobs, L, Sweetman, W L, Nyhan
openaire   +2 more sources

Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection

Clinica Chimica Acta, 2006
Hepatorenal tyrosinemia (HT1) is considered a treatable inherited metabolic disease, particularly when detected early in life. Succinylacetone (SA), a unique metabolic marker for HT1, is normally circulating or excreted at very low physiological concentrations and is significantly increased in HT1 patients.We developed and validated a new method for ...
Osama Y, Al-Dirbashi, Minnie, Jacob, Lujane Y, Al-Ahaidib, Khaled, Al-Qahtani, Zuhair, Rahbeeni, M, Al-Owain, Mohamed S, Rashed   +6 more
openaire   +2 more sources

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs

Rapid Communications in Mass Spectrometry, 2008
Abstract In expanded newborn screening programs by liquid chromatography/tandem mass spectrometry false negatives for tyrosinemia type I are a significant problem. We describe a method for inclusion of succinylacetone in order to avoid false negatives. We studied spots from 13 000 neonates born in Tuscany (January–
LA MARCA, GIANCARLO, Malvagia S, Pasquini E, INNOCENTI, MARZIA, Fernandez MR, Donati MA, ZAMMARCHI, ENRICO   +6 more
openaire   +3 more sources

A patient with urinary succinylacetone‐negative hereditary tyrosinemia type 1

Pediatrics International, 2023
Jun Mori, Taizo Furukawa, Kazuki Kodo, Hisakazu Nakajima, Miori Yuasa, Mitsuru Kubota, Yosuke Shigematsu   +6 more
openaire   +2 more sources

Persistent succinylacetone excretion after liver transplantation in a patient with hereditary tyrosinaemia type I

Journal of Inherited Metabolic Disease, 1984
AbstractA liver transplant was performed on a 4‐year‐old female in liver failure caused by hereditary tyrosinaemia, with hepatocellular carcinoma following a negative evaluation for metastases. However, serum alpha‐fetoprotein levels never returned to normal after the surgery.
M, Tuchman, D K, Freese, H L, Sharp, C B, Whitley, M L, Ramnaraine, R A, Ulstrom, J S, Najarian, N, Ascher, N R, Buist, A B, Terry   +9 more
openaire   +2 more sources

Acute depletion of heme by succinylacetone alters vascular responses but does not induce hypertension

Canadian Journal of Physiology and Pharmacology, 2008
Heme plays a critical role in blood pressure regulation because it is required by a number of enzymes that synthesize vascular modulators, including nitric oxide (NO), carbon monoxide (CO), guanosine 3′,5′-cyclic monophosphate (cGMP), endothelium-derived hyperpolarizing factor (EDHF), and prostacyclin. The goal of this study was to examine the vascular
Jonathan, Soong, Michael A, Adams, Kanji, Nakatsu   +2 more
openaire   +2 more sources