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2 edition of Quantitative fluorimetric assay of alpha-D-galactose-1-phosphate uridyltransferase (E.C.2.7.2.12) from dried bloodspots. found in the catalog.

Quantitative fluorimetric assay of alpha-D-galactose-1-phosphate uridyltransferase (E.C.2.7.2.12) from dried bloodspots.

Gemma Farrell

Quantitative fluorimetric assay of alpha-D-galactose-1-phosphate uridyltransferase (E.C.2.7.2.12) from dried bloodspots.

by Gemma Farrell

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  • 16 Currently reading

Published by The Author] in [S.l .
Written in English


Edition Notes

Thesis (M. Sc. (Biomedical Sciences)) - University of Ulster, 1994.

The Physical Object
Paginationxii, 76, [28]p., tables :
Number of Pages76
ID Numbers
Open LibraryOL21162725M

  The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at with additional details about the score and the social media presence for the given article.   Since Schwarz et al. (1) described the accumulation of galactose 1-phosphate (GalP) [4] in erythrocytes of patients with galactosephosphate uridyltransferase (GALT; EC ) deficiency galactosemia, its measurement has become standard practice for monitoring the treatment of the disorder with galactose-restricted diets ().

Galactosephosphate measurements must be performed in washed red blood cells. Collect 5 ml blood in a sodium heparin, green top tube. The laboratory will isolate red blood cells for use in the assay if a whole blood sample is sent.   We report on a new fluorimetric assay for β-galactosidase (β-gal) and faecal coliform bacteria that utilizes a long-wavelength dye, chlorophenol red-β-d-galactopyranoside (CPRG), that has been widely used for colorimetric novel feature of this new assay is the unexpected development of a large fluorescence response from liberated chorophenol red (CPR) upon .

BioVision’s Beta Galactosidase Activity Assay kit provides a quick and easy way for monitoring Beta Galactosidase activity in a variety of samples. In this kit, Beta Galactosidase hydrolyses a non-fluorescent substrate to generate a strong fluorescent product. The assay is simple, sensitive, and high-throughput adaptable. Detection limit: mU. Test Code GPUT GalactosePhosphate Uridyl Transferase (qualitative) Important Note. Monitoring dietary therapy of patients with galactosemia due to deficiency of galactosephosphate uridyltransferase or uridine diphosphate galactoseepimerase. Service Code. Update.


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Quantitative fluorimetric assay of alpha-D-galactose-1-phosphate uridyltransferase (E.C.2.7.2.12) from dried bloodspots by Gemma Farrell Download PDF EPUB FB2

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request.

Galactosephosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.

Method. Our assay used stable isotope-labeled α-galactosephosphate ([13 C 6]-GalP) as an enzyme cleanup and separation were achieved by reversed-phase ion-pair chromatography, and the enzymatic product, isotope-labeled uridine diphosphate galactose ([13 C 6]-UDPGal), was detected by MS/MS at mass transition ( > ) and quantified by use of [13 C 6] Cited by: CPT Codes: –Galactose -1 phosphate uridyl transferase; quantitative Test Includes: Galactose -1 phosphate uridyl transferase level reported as nmol/h/mg of hemoglobin.

Logistics Test Indications: Diagnosis of galactose -1 phosphate uridyltransferase deficiency, the most common cause of galactosemia. Confirmation of abnormal state. An enzymatically optimized, miniaturized (20 μl) fluorimetric assay of galactosephosphate-uridyltransferase using dried blood spots for newborn screening is presented.

The Beutler reaction principle has been adapted to the microtiter plate technology and acetone/methanol was used for complete by: A simplified radioactive assay for galactosephosphate uridyltransferase (EC ) using a small DEAE-cellulose column for the identification of the endproduct (uridine diphosphate galactose.

This test is used to monitor dietary therapy of patients with galactosemia due to deficiency of galactosephosphate uridyltransferase (GALT) or uridine diphosphate galactoseepimerase (GALE).

This test is not appropriate for the diagnosis of galactosemia. The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier. An improved quantitative method for measuring galactosephosphate uridyltransferase (ECGal-PUT) activity in erythrocytes was developed based on the detection of glucose 1-phosphate.

Fayez K. Ghishan, in Zakim and Boyer's Hepatology (Sixth Edition), Liver. The concentration of both galactosephosphate and galactitol in the liver is elevated in patients fed galactose.However, the liver damage seen in patients with transferase deficiencies does not occur in normal animals fed high-galactose diets despite high hepatic levels of galactosephosphate and high.

Alpha-D-galactose 1-phosphate is a D-galactopyranose 1-phosphate having alpha-configuration at the anomeric centre. It has a role as an Escherichia coli metabolite and a mouse metabolite. It is a D-galactopyranose 1-phosphate and an alpha-D-hexose derives from an is a conjugate acid of an alpha-D-galactose 1-phosphate(2-).

Galactosephosphate uridyltransferase catalyzes the conversion of UDP-glucose to galactosephosphate and galactosephosphate to UDP-glucose. Unit Definition One unit will form μmole of glucose 1-phosphate from UDP-glucose, galactose 1-phosphate and NADP + per min at pH at 25 °C as detected by a coupled system using.

Enzymatic Assay of GALACTOSEPHOSPHATE URIDYL TRANSFERASE (EC ) UNIT DEFINITION: One unit will form µmole of glucose 1-phosphate from UDP-glucose, galactose 1-phosphate and NADP+ per minute at pH at 25°C as detected by a coupled system using. M ; A donor substrate for galactosyltransferases used in the biosynthesis of galactose-containing oligosaccharides.

Decreased red blood cell levels of UDP-Gal are found in patients with maple syrup urine disease or phenylketonuria.

Alpha Galactosidase Activity Assay Kit (ab) provides a simple, rapid way to monitor total alpha galactosidase(α-Gal) activity in a wide variety of biological samples.

In this kit, α-Gal cleaves a synthetic specific substrate releasing a fluorophore, which can be easily quantified (Ex/Em= / nm). An improved quantitative assay of galactosephosphate uridyltransferase activity in erythrocytes based on the determination of glucose 1-phosphate generation.

Schutgens RB, Berntssen WJ, Pool L. An improved quantitative method for measuring galactosephosphate uridyltransferase (ECGal-PUT) activity in erythrocytes was developed. analysis of a patient with galactosephosphate uridyltransferase mutations and and galactose metabolite levels during breast-feeding [case report] PMID: Identified novel mutations in GALT gene using DNA testing.

Symptoms. In undiagnosed and untreated children, the accumulation of precursor metabolites due to the deficient activity of galactose 1-phosphate uridylyltransferase (GALT) can lead to feeding problems, failure to thrive, liver damage, bleeding, and first presenting symptom in an infant is often prolonged t intervention in the form of galactose restriction.

Compliance Statement B: For laboratory developed tests not using a RUO kit, and for FDA approved, cleared or (k) exempt assays with alterations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical.

2) A quantitative galactosephosphate uridyltransferase level (GALT / GalactosePhosphate Uridyltransferase [GALT], Blood) is required for accurate interpretation.

Cautions: A more comprehensive interpretation can be provided when parental specimens are also submitted for testing. Galactosephosphate uridyltransferase is a blood test that measures the level of a substance called GALT, which helps break down milk sugars in your body.

A low level of this substance causes a condition called galactosemia. How the Test is Performed. A blood sample is needed. Deficiency of galactosephosphate uridyltransferase (GalPUT) results in the most common form of galactosemia, a defect of galactose metabolism that is screened for in all newborns.

Measurement of red cell GalPUT activity is an important confirmatory test for patients with positive newborn screens. This test is useful for monitoring dietary therapy for Classic Galactosemia, Galactosemia-Duarte variant and patients with UDP-galactoseepimerase deficiency.

Specimen 4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube. Immerse specimen immediately in ice water. Ship refrigerated.Amplite™ Fluorimetric Beta-Galactosidase Assay Kit can be used either for detecting galactosidase conjugates in ELISA type assay systems or for monitoring LacZ gene expression in cells.

Actively helping customers, employees and the global community during the coronavirus SARS-CoV-2 outbreak. Learn more >> AAT Bioquest.The Galactose Detection research-use-only kit is a colorimetric assay designed for the quantification and detection of galactose in serum, plasma, buffers and tissue culture media.

This complete, ready-to-use kit includes clear well plate(s), galactose standard, assay buffer, and other components to perform the assay.