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Novel methods and kits for detecting of urea cycle disorders using mass spectrometry

A kit and tandem mass spectrometry technology, applied to the labeling used in chemical analysis, biological testing, measuring devices, etc., can solve the problems that metabolites are not effectively detected and there are no specific markers

Inactive Publication Date: 2017-03-08
LABSYST DIAGNOSTICS OY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

In particular, MS is widely used to analyze metabolites from dried blood spots taken at birth (Guthrie cards), but because of the drawbacks discussed in the paragraph above, those metabolites due to UCD were not effectively identified among the metabolites detected. ground detection
[0014] Although highly desirable, the inclusion of UCD screening in newborn screening is hampered by the fact that there are no specific markers for each UCD; syndrome) not directly detectable in dried blood spots (DBS); due to the proposed instability of glutamine in DBS, detection of secondary elevations of glutamine does not appear to be feasible

Method used

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  • Novel methods and kits for detecting of urea cycle disorders using mass spectrometry
  • Novel methods and kits for detecting of urea cycle disorders using mass spectrometry
  • Novel methods and kits for detecting of urea cycle disorders using mass spectrometry

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0284] Example 1: Determination of Glutamine, Lysine, Argininosuccinate and Orotate Levels

[0285] To determine the linearity of the measurements for glutamine, lysine, argininosuccinate, and orotic acid, prepare a standard solution of up to 20 mM for each analyte and inject 10 µL into the tandem mass spectrometer to measure each ion / conversion ( Figure 6-8 ).

Embodiment 2

[0286] Example 2: Determination of Glutamine and Lysine Levels in Dried Blood Samples

[0287] To determine the linearity of the measurement of the sum of lysine and glutamine in dried blood spots (DBS), lysine was added to the blood of healthy donors. Determine the endogenous concentrations of lysine and glutamine in aliquots by standard amino acid determination using ion-exchange chromatography ( Figure 9 ).

Embodiment 3

[0288] Example 3: Determination of the sum of glutamine and lysine in dried blood samples

[0289] Figure 10 Shows the recommended results for the measurement of the sum of glutamine and lysine. For lysine and glutamine, the reference ranges of lysine and glycine were plotted, and the two reference ranges calculated by Unicom (sum of the lower reference range - sum of the upper reference range), 180 healthy neonates Measured values ​​of DBS, measured values ​​of 2 samples from patients with documented OTC deficiency, expected range in patients with urea cycle deficiency (UCD).

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Abstract

The present invention relates to newborn screening kits, methods, stable isotopically-labeled internal standards or internal standard solution for high throughput screening and analysis of metabolic disorders using liquid chromatography mass spectrometry (LC-MS) are provided. The metabolic disorders can be amino acid, organic acid or fatty acid oxidation disorders, and particularly urea cycle disorders or deficiencies, hyperammonemia, Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH), and / or argininosuccinic aciduria. The newborn screening kits, methods, stable isotopically-labeled internal standards or internal standard solution are particularly useful for newborn screening (NBS) of metabolic disorders.

Description

technical field [0001] The present application provides methods, reagents, internal standard solutions, and kits for high-throughput screening and analysis of metabolic disorders using liquid chromatography-mass spectrometry (LC-MS). The metabolic disorder may be an amino acid, organic acid or fatty acid oxidation disorder, in particular a urea cycle disorder or defect, hyperammonemia, argininosuccinicuria and / or hyperornithinemia-hyperammonemia-hyperammonemia Citrullinuria (HHH). The methods, reagents, internal standard solutions and kits are particularly suitable for performing multiple external screening tests in neonates and detecting a panel of metabolic disorders at high speed to confirm and / or track the same disease. Background technique [0002] Currently, screening for biological disorders, particularly newborn screening (NBS) for these disorders, is performed using a variety of methods, depending on the particular disorder being screened for. Currently, many part...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G01N30/02
CPCG01N30/02G01N33/58G01N33/6848G01N2458/15G01N33/487G01N33/50G01N33/68G01N30/724H01J49/0081H01J49/0045
Inventor G·卡拉德R·芬格哈特
Owner LABSYST DIAGNOSTICS OY
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