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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...
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...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
Overview of Carbohydrate Metabolism01:19

Overview of Carbohydrate Metabolism

Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Diabetes Mellitus: Introduction01:26

Diabetes Mellitus: Introduction

Diabetes mellitus consists of chronic metabolic disorders characterized by persistent hyperglycemia. This elevated blood glucose results from defects in insulin secretion, impaired insulin action, or both. Insulin, produced by pancreatic β-cells, is essential for maintaining glucose homeostasis by facilitating cellular glucose uptake for energy or storage. Disruptions in insulin production or function lead to glucose accumulation in the bloodstream, causing the clinical features and long-term...

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Classical galactosaemia in Chinese: A case report and review of disease incidence.

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Related Experiment Video

Updated: Jun 5, 2026

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on: November 23, 2011

Metabolic diseases in children.

D A Applegarth, J E Dimmick

    Canadian Family Physician Medecin De Famille Canadien
    |January 22, 2011
    PubMed
    Summary

    Diagnosing acute metabolic diseases in children can be challenging due to varied symptoms. This article offers a laboratory testing framework for family physicians to aid in diagnosing these pediatric metabolic disorders.

    Area of Science:

    • Pediatrics
    • Clinical Chemistry
    • Genetics

    Background:

    • Metabolic diseases in children present with diverse clinical signs.
    • Family physicians often face the initial diagnosis of these conditions.
    • Early and accurate diagnosis is crucial for effective management.

    Purpose of the Study:

    • To provide a framework for laboratory testing in diagnosing pediatric metabolic diseases.
    • To assist family physicians in identifying and managing acute metabolic disorders in children.
    • To discuss specific metabolic diseases relevant to family practice.

    Main Methods:

    • Review of diagnostic criteria for acute metabolic diseases in children.
    • Development of a systematic laboratory testing approach.

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    Published on: November 23, 2011

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  • Inclusion of common metabolic diseases encountered in primary care.

    • Main Results:

    • A structured laboratory testing framework is proposed.
    • Key diagnostic tests are identified for various metabolic presentations.
    • Common metabolic diseases are highlighted with clinical context.

    Conclusions:

    • The proposed framework aids family physicians in diagnosing pediatric metabolic diseases.
    • Systematic laboratory evaluation improves diagnostic accuracy.
    • Integration of this approach enhances patient care in family practice settings.