Related Experiment Video

Updated: Aug 23, 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

An approach to the diagnosis of overwhelming metabolic disease in early infancy

W L Nyhan

    Current Problems in Pediatrics
    |April 1, 1977
    PubMed

    Insights

    Diagnosing rare metabolic diseases in newborns is crucial. This study outlines a systematic approach using clinical clues and laboratory tests for early detection of inborn errors of metabolism.

    Area of Science:

    • Pediatrics
    • Medical Genetics
    • Biochemistry

    Background:

    • Heritable metabolic diseases cause severe illness in infants.
    • Many infants with metabolic disorders remain undiagnosed.
    • New, unidentified inborn errors of metabolism are suspected in critically ill newborns.

    Purpose of the Study:

    • To develop a systematic diagnostic approach for critically ill newborns suspected of having metabolic disease.
    • To identify early diagnostic clues for metabolic disorders in neonates.

    Main Methods:

    • Clinical observation for suggestive signs of disordered metabolism.
    • Laboratory investigations to confirm clinical suspicions.
    • Systematic screening and advanced organic analysis for definitive diagnosis.

    Main Results:

    • Clinical clues can indicate potential metabolic derangements.
    • Laboratory tests are valuable for initial screening and confirmation.
    • Diagnostic complexity increases with advanced analytical techniques.

    Conclusions:

    • A systematic approach is essential for diagnosing metabolic diseases in sick newborns.
    • Early diagnosis of inborn errors of metabolism can be achieved through integrated clinical and laboratory methods.
    • Further research into novel metabolic pathways is warranted.

    More Related Videos

    Biochemical Measurement of Neonatal Hypoxia13:13

    Biochemical Measurement of Neonatal Hypoxia

    Published on: August 24, 2011

    Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics11:02

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

    Published on: November 29, 2024

    Related Concept Videos

    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...
    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...
    Diabetes: Symptoms, Diagnosis, and Complications01:15

    Diabetes: Symptoms, Diagnosis, and Complications

    For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is based on...
    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...
    Diabetic Ketoacidosis l: Introduction01:25

    Diabetic Ketoacidosis l: Introduction

    DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic ketone production, and...
    Diabetic Ketoacidosis ll: Pathophysiology01:22

    Diabetic Ketoacidosis ll: Pathophysiology

    Diabetic ketoacidosis (DKA) is a metabolic emergency characterized by hyperglycemia, ketonemia, and metabolic acidosis. It results from severe insulin deficiency and an excess of counterregulatory hormones, leading to uncontrolled lipolysis, ketogenesis, and widespread electrolyte and fluid disturbances.Pathophysiology The central event in DKA is a profound loss of insulin action. Without insulin, glucose uptake in insulin-dependent tissues is impaired, while hepatic glucose production...