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Related Concept Videos

Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

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In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Metabolomics in Newborns.

Antonio Noto1, Vassilios Fanos1, Angelica Dessì1

  • 1University of Cagliari, Cagliari, Italy.

Advances in Clinical Chemistry
|April 28, 2016
PubMed
Summary

Metabolomics analyzes metabolites in biological fluids to detect diseases in infants. This review highlights its use in diagnosing neonatal conditions like prematurity and sepsis.

Area of Science:

  • Metabolomics
  • Biochemistry
  • Clinical Diagnostics

Background:

  • Metabolic profiles in human fluids result from gene-environment interactions.
  • Metabolomics enables identification of metabolite variations for disease discrimination.
  • This approach is crucial for neonatal and pediatric studies, especially for critically ill patients.

Purpose of the Study:

  • To review the workflow of metabolomics studies.
  • To summarize recent findings in neonatal metabolomics research.
  • To highlight the clinical importance of metabolomics in diagnosing infant diseases.

Main Methods:

  • Quantitative analysis of low molecular weight metabolites.
  • Profiling of metabolic pathways in biological fluids.
Keywords:
(1)H NMRGC/LC-MSMetabolomicsNeonatal pathologyNewborn

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  • Application of metabolomics in various neonatal conditions.

    • Main Results:

    • Metabolomics can identify specific metabolite profiles indicative of various neonatal diseases.
    • The review covers applications in prematurity, intrauterine growth retardation, inborn errors of metabolism, perinatal asphyxia, sepsis, necrotizing enterocolitis, kidney disease, bronchopulmonary dysplasia, and cardiac conditions.
    • Variations in metabolite profiles are key discriminators for disease states.

    Conclusions:

    • Metabolomics is a powerful tool for early diagnosis and identification of diseases in neonates.
    • Its application is vital for improving clinical outcomes in critically ill infants.
    • The review underscores the growing clinical importance of metabolomics in redefining health and disease in pediatrics.