AIMC Topic: Metabolism, Inborn Errors

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Training machine learning models to detect rare inborn errors of metabolism (IEMs) based on GC-MS urinary metabolomics for diseases screening.

International journal of medical informatics Dec 16, 2024
BACKGROUND: Gas chromatography-mass spectrometry (GC-MS) has been shown to be a potentially efficient metabolic profiling platform in urine analysis. However, the widespread use of GC-MS for inborn errors of metabolism (IEM) screening is constrained ...
China Humans Metabolism, Inborn Errors Metabolomics Machine Learning Gas Chromatography-Mass Spectrometry Female Male
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Prediction of inherited metabolic disorders using tandem mass spectrometry data with the help of artificial neural networks.

Turkish journal of medical sciences Jul 12, 2024
BACKGROUND/AIM: Tandem mass spectrometry is helpful in diagnosing amino acid metabolism disorders, organic acidemias, and fatty acid oxidation disorders and can provide rapid and accurate diagnosis for inborn errors of metabolism. The aim of this stu...
Child Tandem Mass Spectrometry Metabolism, Inborn Errors Humans Neural Networks, Computer
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Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.

International journal of molecular sciences Feb 1, 2020
Untargeted metabolomics may become a standard approach to address diagnostic requests, but, at present, data interpretation is very labor-intensive. To facilitate its implementation in metabolic diagnostic screening, we developed a method for automat...
Metabolism, Inborn Errors Mass Screening Metabolome Tandem Mass Spectrometry Knowledge Bases Data Interpretation, Statistical Biomarkers Case-Control Studies Humans Algorithms
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Increased risk of group B Streptococcus causing meningitis in infants with mannose-binding lectin deficiency.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases Oct 25, 2018
OBJECTIVES: To evaluate the association of mannose-binding lectin (MBL) deficiency with susceptibility and clinical features of group B Streptococcus (GBS) causing meningitis in Chinese infants.
Genotype Genetic Association Studies Case-Control Studies Polymorphism, Genetic Streptococcus agalactiae Young Adult China Adult Infant, Newborn Disease Susceptibility Middle Aged Risk Factors Meningitis, Bacterial Mannose-Binding Lectin Male Humans Alleles Infant Metabolism, Inborn Errors Female Streptococcal Infections
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Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Genetics in medicine : official journal of the American College of Medical Genetics Jul 20, 2017
PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing on inborn errors of metabolism (IEMs), we present a method that brings the knowledge of high...
Software Algorithms Clinical Decision-Making Knowledge Bases Reproducibility of Results Humans Medical Informatics Phenotype Genotype Chromosome Mapping Genetic Association Studies Metabolism, Inborn Errors ROC Curve Expert Testimony Databases, Genetic Genetic Predisposition to Disease
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The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal of inherited metabolic disease Jan 1, 2025
Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is nee...
Metabolome Knowledge Bases Humans Metabolism, Inborn Errors
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Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.

American journal of human genetics Apr 1, 2021
Genome sequencing is enabling precision medicine-tailoring treatment to the unique constellation of variants in an individual's genome. The impact of recurrent pathogenic variants is often understood, however there is a long tail of rare genetic vari...
Machine Learning Precision Medicine Humans Genomics Genetic Variation Genetics, Medical Infant, Newborn Pharmacogenetics Genome, Human Metabolism, Inborn Errors
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