Analyte detection method
An analyte, a technology for detecting samples, applied in the field of analyte detection, which can solve problems such as changes
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Embodiment 1
[0179] Example 1: Identification of stable solvents for CMS and iso-CMS methods.
[0180] To identify alternative solvents, the standard curve and detection sensitivity of blood [ONDS] measurements, which were performed under CMS conditions, were examined as Figure 3A and 3B shown. Whole blood was diluted 10-fold into a stable solution containing one of acetonitrile, isopropanol, methanol, or ethanol (25% V / V) and water, each of which is less toxic than acetonitrile, i.e. requiring more High doses are required for them to exhibit toxic effects. They were then used to measure blood samples infused with a range of [ONDS]. Assays were performed as described above. All extraction solvents tested yielded the same results as the acetonitrile control sample ( Figure 7A ). Isopropanol was chosen for further testing and its use as a stable solvent for [ONDS] measurements in a clinical setting. Again, these tests and measurements were performed as described above. Studies have...
Embodiment 2
[0182] Example 2: Detection of blood markers with iso-CMS
[0183]In this example, blood markers of genetic diseases were accurately measured by the iso-CMS method described herein. Therefore, the study shows that this genetic disorder can be easily, quickly and non-invasively diagnosed using these methods.
[0184] Phenylketonuria (PKU) provides an example of a treatable IEM. PKU (OMIM261600) is an autosomal recessive IEM caused by a deficiency in the 452 amino acid enzyme (phenylalanine hydroxylase, PAH) encoded by the 171kB gene on chromosome 12q23. amino acid (Phe) metabolism. Accumulation of toxic Phe metabolites can lead to growth failure, microcephaly, seizures, developmental delay, and severe intellectual disability.
[0185] Screening and treatment. PKU is the first genetic disorder to receive an effective treatment, which involves limiting dietary intake of phenylalanine. Therefore, screening newborns for PKU is crucial. Typically, neonatal blood is obtained by...
Embodiment 3
[0192] Example 3: Biomarkers of Genetic Diseases Measured by iso-CMS
[0193] In this example, blood markers of genetic diseases were accurately measured by the iso-CMS method described herein. Therefore, the study shows that this genetic disorder can be easily, quickly and non-invasively diagnosed using these methods.
[0194] Maple syrup diabetes (MSUD, MIM#248600) is an autosomal recessive inborn error of metabolism (IEM). The normal activity of the branched-chain alpha-ketoacid dehydrogenase (BCKAD) complex is disrupted by mutations, which interfere with the catabolism of branched-chain amino acids (BCAAs) including valine, leucine, and isoleucine. BCAAs were elevated in plasma and urine in diseased subjects. MSUD is characterized by neurological and developmental delays, encephalopathy, feeding problems and a maple syrup smell in the urine. If left untreated, MSUD can lead to metabolic decompensation, irreversible neurological damage and death. A recent analysis of MS...
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