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Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

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 a challenge in...
Drug toxicity: Idiosyncratic Reactions01:16

Drug toxicity: Idiosyncratic Reactions

Idiosyncratic drug reactions represent abnormal chemical responses that vary significantly among individuals, ranging from extreme sensitivity to low doses to insensitivity to high doses. These reactions often occur due to the drug's covalent binding with serum proteins, forming a foreign hapten that triggers an immunotoxicological response. The variability in drug reactions has a strong pharmacogenetic foundation, with genetic differences crucial in how individuals metabolize drugs. For...
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Overview of Metabolism01:40

Overview of Metabolism

Living cells constantly carry out various chemical reactions which are necessary for their proper functioning. These reactions are interlinked to one another via multiple pathways. The collection of these chemical reactions is known as metabolism.
Plant Metabolism
Sunlight, the primary source of energy in plants, is first absorbed by the chlorophyll pigments present in their leaves. Plants then use this energy to carry out photosynthesis, where water is oxidized into oxygen and carbon dioxide...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...

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Related Experiment Video

Updated: May 30, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

[Inborn errors of metabolism: new developments and challenges].

C De Laet1, C Carlier, M Robert

  • 1Unité de Nutrition et Métabolisme, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Bruxelles.

Revue Medicale De Bruxelles
|August 9, 2011
PubMed
Summary
This summary is machine-generated.

Inborn errors of metabolism (IEMs) are increasingly identified and understood due to advances in genetics and diagnostics. Improved treatments and early detection have transformed patient outcomes, necessitating multidisciplinary care and knowledge sharing.

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Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
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Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics

Published on: November 29, 2024

Related Experiment Videos

Last Updated: May 30, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
11:02

Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics

Published on: November 29, 2024

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Context:

  • The concept of inborn errors of metabolism (IEMs) originated from Sir A. Garrod's early 20th-century observations.
  • Recent decades have seen exponential growth in cellular biology and molecular genetics knowledge.
  • Advanced diagnostic tools facilitate the identification of a widening spectrum of IEMs.

Purpose:

  • To review the advancements in understanding, diagnosing, and treating inborn errors of metabolism.
  • To highlight the evolving therapeutic landscape and its impact on patient prognosis.
  • To emphasize the need for multidisciplinary management and international collaboration in IEM care.

Summary:

  • Physiopathology of IEMs is increasingly elucidated.
  • Therapeutic strategies have significantly improved, including specialized diets, medical treatments, enzyme replacement, and transplantation.
  • Gene therapy and other novel techniques are under development.

Impact:

  • Earlier diagnosis and enhanced therapeutic efficacy have dramatically improved the prognosis for many IEMs.
  • The complexity of IEM management necessitates a multidisciplinary team approach.
  • Sharing experiences globally is crucial for optimizing patient care in this rapidly evolving field.