This work describes four case reports that had incidental findings on the NBS, which eventually led to the diagnosis of another metabolic disease instead of the one that was initially suspected. MassChrom Amino Acids and Acylcarnitines was used.
According to the study, plasma branched-chain amino acids (CAAA) could be an important link between obesity and other metabolic pathways. The study used MassChrom Amino Acids and Acylcarinitines (non-derivatised).
The study demonstrates that a combination of whole-exome sequencing (WES) and computational analysis are potent tools for validation of diagnosis and classification of disease-causing variants. MassChrom Amino Acids and Acylcarnitines was used.
The results indicate a relatively strong postnatal induction of FA oxidation in skeletal muscle of the obesity-resistant A/J mice. This induction is transient and probably results from suppression of PDH activity, linked with a postnatal surge in plasma leptin levels, independent of AMPK. AA and Acylcarnitines measured by MassChrom Amino Acids assay.
This assessment contributes to the identification of the unique metabolic features exhibited in association with cardiometabolic risk in adults diagnosed with CVD. The altered metabolites have the potential to be used as biomarkers for early detection of CVD. Measured with the NBS assay that was adopted to plasma determination.
The study's findings might shed light on molecular understanding of mcopolysaccharidoses pathophysiology to develop further studies to enhance diagnosis and treatments of this rare condition. MassChrom Amino Acids and Acylcarnitines was used.
The authors concluded that glutaric acidemia type 1 disease is uncommon in Egypt and must be included in the comprehensive newborn screening practices in Egypt, which lacks a comprehensive program. MassChrom Amino Acids and Acylcarnitines was used.
The results connect all-trans retinoic acid to specific nutrition-modulated biochemical pathways, and suggest novel mechanisms of action of vitamin A-derived retinoic acid on metabolic health. Amino acids and acylcarnitines were measured with the MassChrom assay
Based on the exceeded levels of the specific biomarker C4-acylcarnitine as well as ethylmalonic acid, we revealed a high prevalence of short-chain acyl-CoA dehydrogenase deficiency cases, confirmed by the findings of two rare pathogenic variants. Acylcarnitines were measured with MassChrom Amino Acids and Acylcarnitines assay.
The Chromsystems LC-MS/MS assay MassChrom Amino Acid Analysis demonstrated comparable analytical performance and reasonable correlation with ion exchange chromatography (IEC). It also confers practical advantages which cannot be realised by ion exchange chromatography, superior specificity and significantly faster analysis time, suggesting that IEC should no longer be described as the gold standard method for plasma amino acid analysis.
Evaluation of the MassChrom Amino Acids and Acylcarnitines assay with SuAC
Please find here publications as guides for reference ranges or therapeutic ranges. As they may differ from other published data. Data vary depending on patient population and measurement method, please determine ranges for your laboratory. When determining ranges make sure that you comply with local national requirements.
Reference intervals of age-specific blood amino acids using LC-MS/MS were established in the Thai pediatric population. They diverge from previous studies, substantiating the recommendation that, for the optimal clinical practice, age-specific reference intervals of amino acids should be designated for the particular population and analysis method. NBS was performed with MassChrom Amino Acids and Acylcarnitines.
Although the risk of underdiagnosis of fatty acid oxidation disorders with the use of newborn values as reference can be considered as small, in some circumstances the use of age-related reference values may have a potential impact on the diagnosis and management of inherited errors of metabolism.