Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

167
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...
167
Diabetes Mellitus: Overview and Type I Subtype01:22

Diabetes Mellitus: Overview and Type I Subtype

2.7K
Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
2.7K
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

956
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,...
956
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

2.5K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.5K
Glucose Transporters01:27

Glucose Transporters

22.8K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.8K
Hypoglycemia and Glucagon01:15

Hypoglycemia and Glucagon

274
Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
274

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Schoolwide Positive Behavior Interventions and Support in Portuguese Schools: An Exploratory Study.

Behavioral sciences (Basel, Switzerland)·2026
Same author

Pediatric Allergy to Poultry Meat: A Case of Egg-Bird Syndrome.

Cureus·2026
Same author

NMR-based urinary biomarkers in pediatric primary mitochondrial disorders and chronic kidney disease: shared mitochondrial dysfunction, diverging biosignatures.

Metabolomics : Official journal of the Metabolomic Society·2026
Same author

Real-world safety data of first-line drugs for rheumatoid arthritis: insights from the Portuguese Reuma.pt database.

ARP rheumatology·2026
Same author

Juvenile Xanthogranuloma: A Visual Clinical Diagnosis.

Cureus·2025
Same author

Evaluating the Impact of Newborn Screening for Cystic Fibrosis in Portugal: A Decade of Insights and Outcomes.

International journal of neonatal screening·2025

Related Experiment Video

Updated: Jul 12, 2025

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
09:42

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining

Published on: December 23, 2014

21.3K

Neonatal Glycogen Storage Disease Type IA: A Rare Presentation.

Joana Tenente1, Teresa Campos2, Carla Vasconcelos2

  • 1Hospital de São João Pediatrics Department Porto Portugal.

Endocrine, Metabolic & Immune Disorders Drug Targets
|October 20, 2023
PubMed
Summary

Glycogen storage disease Type Ia (GSD Ia) in newborns requires prompt recognition of hypoglycemia and metabolic derangements. Early management with frequent feedings and glucose monitoring is crucial for preventing severe complications and ensuring healthy development.

Keywords:
Hypoglycemiaglucoseglycogen storage diseasehyperlactatemiaketone bodies.

More Related Videos

Biochemical Titration of Glycogen In vitro
07:16

Biochemical Titration of Glycogen In vitro

Published on: November 24, 2013

28.5K
Author Spotlight: Exploring Metabolic and Aging Processes in C. elegans Using Low-Cost, High-Impact Assays
08:29

Author Spotlight: Exploring Metabolic and Aging Processes in C. elegans Using Low-Cost, High-Impact Assays

Published on: February 23, 2024

1.1K

Related Experiment Videos

Last Updated: Jul 12, 2025

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
09:42

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining

Published on: December 23, 2014

21.3K
Biochemical Titration of Glycogen In vitro
07:16

Biochemical Titration of Glycogen In vitro

Published on: November 24, 2013

28.5K
Author Spotlight: Exploring Metabolic and Aging Processes in C. elegans Using Low-Cost, High-Impact Assays
08:29

Author Spotlight: Exploring Metabolic and Aging Processes in C. elegans Using Low-Cost, High-Impact Assays

Published on: February 23, 2024

1.1K

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Glucose homeostasis is vital for the central nervous system and energy production, relying on glycogen metabolism.
  • Glycogen storage diseases (GSDs) result from enzymatic defects in glycogen breakdown, often affecting the liver and causing hepatomegaly, hypoglycemia, and neurological issues.
  • GSD Type Ia is a severe inherited metabolic disorder with high morbidity and mortality if untreated, typically manifesting in early infancy.

Purpose of the Study:

  • To present a case of a newborn diagnosed with Glycogen storage disease Type Ia.
  • To highlight the importance of recognizing early clinical and metabolic red flags for GSD Ia in neonates.
  • To emphasize the critical role of timely and appropriate management in improving patient outcomes.

Main Methods:

  • Clinical case presentation of a male newborn with symptoms including hypoglycemia, metabolic acidosis, and hyperlactatemia.
  • Diagnostic workup involving biochemical tests (glucose, liver enzymes, triglycerides) and abdominal ultrasound.
  • Confirmation of diagnosis through genetic testing for GSD Type Ia.
  • Management involved intravenous glucose, followed by a specialized formula and frequent dextrin supplementation.

Main Results:

  • The patient presented with severe hypoglycemia unresponsive to initial measures, metabolic acidosis, hyperlactatemia, and elevated liver enzymes.
  • Genetic testing confirmed the diagnosis of GSD Type Ia.
  • The infant was successfully managed with a galactose-free formula, frequent feedings, and dextrin, showing normal physical development at 7 months without hepatomegaly.
  • Continuous glucose monitoring and frequent feeding strategies were implemented.

Conclusions:

  • Hypoglycemia and early weight loss in newborns, especially with accompanying metabolic derangements like hyperlactatemia and acidosis, are critical indicators for considering glycogen metabolism disorders.
  • GSD Type Ia can present early, contrary to typical presentations, necessitating vigilant diagnostic approaches.
  • Avoiding fasting and hypoglycemia is paramount for optimal cognitive development, overall prognosis, and preventing metabolic complications in GSD Ia patients.