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Related Concept Videos

Hypoglycemia and Glucagon01:15

Hypoglycemia and Glucagon

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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...
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Oral Hypoglycemic Agents: Glinides01:06

Oral Hypoglycemic Agents: Glinides

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Repaglinide (Prandin) and Nateglinide (Starlix), known as glinides, are oral insulin secretagogues that stimulate insulin release from pancreatic β cells by closing the ATP-sensitive potassium channels (KATP channel). Repaglinide controls insulin release from pancreatic β cells by managing potassium efflux. It shares two binding sites with sulfonylureas and also has a unique site, indicating overlapping mechanisms of action. With a rapid onset and a 4-7 hour duration, it effectively...
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Hormones Regulating Blood Glucose01:16

Hormones Regulating Blood Glucose

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Insulin is released by beta cells of the pancreas when blood glucose levels are high. It facilitates glucose absorption and utilization in insulin-dependent cells with insulin receptors on their plasma membranes. Insulin promotes glucose uptake by increasing the number of glucose transport proteins in the cell membrane, allowing glucose to enter the cell. As a result, glucose utilization and ATP production are enhanced.
In addition to accelerating glucose uptake and utilization, insulin has...
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Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

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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...
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Glucose Transporters01:27

Glucose Transporters

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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:
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Glucose Homeostasis: Regulation of Blood Glucose01:02

Glucose Homeostasis: Regulation of Blood Glucose

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Carbohydrates consumed through foods are converted into glucose, a crucial energy source for the body. In the prandial state, high blood glucose levels stimulate the secretion of insulin from the pancreas. Insulin inhibits hepatic glucose production and stimulates glucose uptake and metabolism by muscle and adipose tissue. The excess glucose is converted into glycogen and stored in the liver and muscles.
During fasting, when blood glucose levels are low, the pancreas secretes glucagon. it...
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Related Experiment Video

Updated: Sep 27, 2025

Study of In Vivo Glucose Metabolism in High-fat Diet-fed Mice Using Oral Glucose Tolerance Test OGTT and Insulin Tolerance Test ITT
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Hypoglycaemia Metabolic Gene Panel Testing.

Arianna Maiorana1, Francesca Romana Lepri2, Antonio Novelli2

  • 1Division of Metabolism, Department of Pediatrics Subspecialties, Ospedale Pediatrico Bambino Gesù, IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Rome, Italy.

Frontiers in Endocrinology
|April 15, 2022
PubMed
Summary
This summary is machine-generated.

Inborn errors of metabolism causing hypoglycemia require rapid genetic diagnosis. Advanced sequencing technologies and multidisciplinary collaboration accelerate diagnosis, enabling timely therapies and improved patient outcomes.

Keywords:
NGShypoglycemianext generation sequencingwhole exome sequencingwhole genome sequencing

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Inborn errors of metabolism (IEMs) frequently manifest as hypoglycemia, affecting glucose homeostasis through diverse biochemical pathways.
  • Traditional genetic analysis of IEMs involved single-gene testing, which is often insufficient due to genetic heterogeneity.

Purpose of the Study:

  • To highlight the importance of advanced genetic sequencing technologies for diagnosing IEMs with hypoglycemia.
  • To emphasize the role of clinical phenotypes in guiding molecular analysis and interpreting genetic variants.

Main Methods:

  • Utilizing next-generation sequencing (NGS) for comprehensive genetic analysis of IEMs.
  • Integrating biochemical and clinical data to direct genetic testing and variant interpretation.
  • Employing trio analysis for genetic counseling and recurrence risk assessment.

Main Results:

  • Rapid diagnosis through extensive molecular testing via NGS facilitates prompt initiation of targeted therapies.
  • Trio analysis aids in expanding disease phenotype characterization and identifying novel disease genes.
  • Multidisciplinary collaboration is crucial for interpreting complex genetic findings.

Conclusions:

  • Advanced genetic technologies and integrated approaches are essential for accurate and timely diagnosis of IEMs presenting with hypoglycemia.
  • Effective management relies on rapid diagnosis, personalized therapies, and comprehensive genetic counseling.