ES2689084T3 - Método de diagnóstico de la galactosemia en un cribado neonatal - Google Patents

Método de diagnóstico de la galactosemia en un cribado neonatal Download PDF

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Publication number
ES2689084T3
ES2689084T3 ES13817874.4T ES13817874T ES2689084T3 ES 2689084 T3 ES2689084 T3 ES 2689084T3 ES 13817874 T ES13817874 T ES 13817874T ES 2689084 T3 ES2689084 T3 ES 2689084T3
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Spain
Prior art keywords
galactosemia
diagnostic method
neonatal screening
neonatal
screening
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ES13817874.4T
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English (en)
Inventor
Arieh Sierra COHEN
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Statens Serum Institut SSI
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Statens Serum Institut SSI
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    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/66—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving blood sugars, e.g. galactose
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/54—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving glucose or galactose
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2400/00—Assays, e.g. immunoassays or enzyme assays, involving carbohydrates
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/04—Endocrine or metabolic disorders
    • G01N2800/042—Disorders of carbohydrate metabolism, e.g. diabetes, glucose metabolism
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/38—Pediatrics
    • G01N2800/385—Congenital anomalies
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/50—Determining the risk of developing a disease

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Hematology (AREA)
  • Molecular Biology (AREA)
  • Urology & Nephrology (AREA)
  • Biomedical Technology (AREA)
  • Chemical & Material Sciences (AREA)
  • Immunology (AREA)
  • Food Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Microbiology (AREA)
  • Cell Biology (AREA)
  • Biotechnology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Diabetes (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

Un método para la determinación de las concentraciones de GAL-1-P en una muestra sanguínea temprana de neonatos mediante la modificación de los grupos carbonilo que interfieren con los monofosfatos de hexosa que no están modificados en la posición 1 mediante la reacción con una hidrazina.

Description

imagen1
imagen2
imagen3
imagen4
imagen5
Tabla 1
Muestras de pacientes
Sin hidrazina Sin hidrazina Tipo
Conc. de HMP (mmol/l)
Conc. de HMP (mmol/l)
PK86-980075
1,89 2,75 Positivo para Gal-1-P
PK89-1770190
3,17 3,25
PK92-1470112
3,53 3,65
PK93-1040522
4,44 5,14
PK93-1820225
0,64 0,60
PK94-1950070
2,92 3,20
PK95-3180095
3,82 5,10
PK96-1900262
0,83 0,62
PK97-1130063
4,30 5,63
PK98-1610299
0,49 0,36
PK99-9080147
4,13 5,26
PK00-9900138
3,23 2,92
Y43751
5,06 5,54
Z51831
2,83 3,34
Y48128
4,30 6,05
Y15197
4,80 5,36
Y65662
1,08 1,21
Y38421 *
0,59 0,56
10FEB0SR152 *
4,18 4,38
10OKT06R008 *
4,64 5,44
Y48614
1,55 1,79 Heterocigoto para la Gal-1-P
Y55980
1,38 1,57
Y62095
0,96 1,07
Y62769
1,73 1,70
10DEC18R065
2,00 -0,01 Negativo (positivo para otras enfermedades)
10DEC29R034
0,04 0,01
11AUG03R127
0,05 0,07
11DEC08R096
0,05 0,01
11DEC20R343
0,06 0,01
12JAN03R392
0,04 0,01
12FEB03R060
0,04 0,01
12FEB21R096
0,05 0,00
12FEB21R458
0,05 -0,01 Negativo (negativo para otras enfermedades)
12FEB21R459
0,05 0,01
12FEB21R460
0,05 0,01
12FEB21R461
0,05 0,01
12FEB21R462
0,10 0,03
12FEB21R463
0,08 0,04
7

Claims (1)

  1. imagen1
ES13817874.4T 2012-12-03 2013-11-28 Método de diagnóstico de la galactosemia en un cribado neonatal Active ES2689084T3 (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
DKPA201200767 2012-12-03
DK201200767 2012-12-03
PCT/DK2013/000084 WO2014086361A1 (en) 2012-12-03 2013-11-28 Method of diagnosing galactosemia in neonatal screening

Publications (1)

Publication Number Publication Date
ES2689084T3 true ES2689084T3 (es) 2018-11-08

Family

ID=49918358

Family Applications (1)

Application Number Title Priority Date Filing Date
ES13817874.4T Active ES2689084T3 (es) 2012-12-03 2013-11-28 Método de diagnóstico de la galactosemia en un cribado neonatal

Country Status (12)

Country Link
US (1) US9410960B2 (es)
EP (1) EP2926139B1 (es)
JP (1) JP6491103B2 (es)
CN (1) CN104797938B (es)
BR (1) BR112015012773A2 (es)
CA (1) CA2892926C (es)
DK (1) DK2926139T3 (es)
ES (1) ES2689084T3 (es)
HU (1) HUE039597T2 (es)
PL (1) PL2926139T3 (es)
PT (1) PT2926139T (es)
WO (1) WO2014086361A1 (es)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN108226323A (zh) * 2017-12-13 2018-06-29 重庆华邦胜凯制药有限公司 一种测定异烟肼起始原料4-氰基吡啶及其杂质含量的方法
RU2694839C1 (ru) * 2018-08-16 2019-07-17 Федеральное государственное автономное учреждение "Национальный медицинский исследовательский центр здоровья детей" Министерства здравоохранения Российской Федерации (ФГАУ "НМИЦ здоровья детей" Минздрава России) Способ профилактики нутритивной недостаточности у детей с болезнью Гиршпрунга
EP3870964A4 (en) * 2018-10-19 2022-10-26 Avalon Hepapoc Limited SYSTEM FOR RAPID QUANTITATIVE DETERMINATION OF GALACTOSE AND ITS USE

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5585473A (en) * 1994-12-09 1996-12-17 The Biomembrane Institute Compounds and methods for monosaccharide analysis
US6913879B1 (en) * 2000-07-10 2005-07-05 Telechem International Inc. Microarray method of genotyping multiple samples at multiple LOCI
US6451611B1 (en) * 2000-07-28 2002-09-17 Statens Serum Institute Quantitative analysis of hexose-monophosphates from biological samples
US6800489B2 (en) * 2002-06-05 2004-10-05 Izaak Walton Killam Health Center Electrospray tandem mass spectrometry of transition metal diimine complexes of amino acids, α-hydroxyketones and hexose phosphates for newborn screening
US7951608B2 (en) * 2007-05-04 2011-05-31 Perkinelmer Health Sciences, Inc. Detecting succinylacetone
JP5092112B2 (ja) * 2007-12-13 2012-12-05 財団法人ヒューマンサイエンス振興財団 糖類及び糖鎖のフェニルヒドラゾン化方法、該方法によりフェニルヒドラゾン化した糖類及び糖鎖の分析方法、並びに、前記方法を利用した糖類及び糖鎖の比較定量方法

Also Published As

Publication number Publication date
US9410960B2 (en) 2016-08-09
EP2926139B1 (en) 2018-07-11
CA2892926A1 (en) 2014-06-12
CN104797938B (zh) 2017-12-26
JP2016509197A (ja) 2016-03-24
WO2014086361A1 (en) 2014-06-12
CN104797938A (zh) 2015-07-22
DK2926139T3 (en) 2018-10-22
EP2926139A1 (en) 2015-10-07
PT2926139T (pt) 2018-11-05
US20150293111A1 (en) 2015-10-15
HUE039597T2 (hu) 2019-01-28
CA2892926C (en) 2023-02-21
PL2926139T3 (pl) 2018-12-31
JP6491103B2 (ja) 2019-03-27
BR112015012773A2 (pt) 2017-07-11

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