Publications by authors named "Mirjam van Aalderen"
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Front Mol Biosci
November 2023
Article Synopsis
- Early diagnosis of inherited metabolic diseases (IMDs) is crucial for effective treatment and better patient outcomes, but the variety of these diseases complicates timely diagnosis.
- Untargeted metabolomics, using advanced techniques like direct infusion high-resolution mass spectrometry (DI-HRMS), shows promise for diagnosing IMDs but remains underused in clinical settings compared to traditional methods.
- A year-long study found that while targeted assays and untargeted metabolomics provided strong correlations for many metabolites, DI-HRMS identified additional metabolic disorders in some patients that targeted assays had missed, highlighting its potential for broader diagnostic applications.
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish the role of LDHD by demonstrating that LDHD loss-of-function in zebrafish results in increased concentrations of D-lactate.
View Article and Find Full Text PDFIt is a requirement that parenteral medicines be tested for pyrogens (fever causing agents) using one of two animal-based tests: the rabbit pyrogen test and the bacterial endotoxin test. Understanding the human fever reaction has led to novel non-animal alternative tests based on in vitro activation of human monocytoid cells in response to pyrogens. Using 13 prototypic drugs, clean or contaminated with pyrogens, we have validated blindly six novel pyrogen tests in ten laboratories.
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