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

Type II Diabetes II: Pathophysiology01:24

Type II Diabetes II: Pathophysiology

6
PathophysiologyType 2 diabetes mellitus (T2DM ) is a chronic metabolic disorder characterized by insulin resistance and progressive pancreatic β-cell dysfunction, leading to impaired glucose homeostasis. It results from interactions among genetic predisposition, environmental factors, and metabolic stressors, such as overnutrition and a sedentary lifestyle.Insulin Resistance and Glucose DysregulationEarly T2DM involves insulin resistance in skeletal muscle, adipose tissue, and the liver.
6
Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

8
Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular...
8
Type II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

5
Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
5
Type I Diabetes III: Clinical Manifestations01:19

Type I Diabetes III: Clinical Manifestations

10
Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the...
10
Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

8
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1...
8
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

4.8K
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...
4.8K

You might also read

Related Articles

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

Sort by
Same author

X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

Journal of neurology·2026
Same author

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia.

European journal of neurology·2026
Same author

The evolution toward integrated community health care for older people in Italy.

Aging clinical and experimental research·2025
Same author

Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.

Journal of neurology·2025
Same author

Relationship between interleukin 1 (IL-1) genetic polymorphism and periimplantitis: systematic literature review and meta-analysis.

European review for medical and pharmacological sciences·2024
Same author

Development of an analytical platform for the affinity screening of natural extracts by SEC-MS towards PPARα and PPARγ receptors.

Analytica chimica acta·2024
Same journal

Corrigendum to: Sortilin as a Culprit in the Atherosclerosis Plaque Progression: Evidence from Clinical and Experimental Studies.

Current molecular medicine·2026
Same journal

Dynamic Expression of Fibroblast Activation Protein (FAP) During Chronic Pancreatitis (CP) Progression in Mice and Evaluation of FAP-targeted Tracers for Early CP Diagnosis.

Current molecular medicine·2026
Same journal

Causal Relationship Between 91 Inflammatory Factors and Gastritis: A Two-Sample Bidirectional Mendelian Randomization Study.

Current molecular medicine·2026
Same journal

Therapeutic Potential of Pistacia Atlantica Gum in Aspirin-Induced Peptic Ulcers: A Dose-Dependent Approach to Mucosal Protection and Hepatorenal Safety.

Current molecular medicine·2026
Same journal

Identification and Characterization of MicroRNAs Associated with Borax-mediated Anti-tumor Activity through High-throughput Technology.

Current molecular medicine·2026
Same journal

Broad-Spectrum Vaccines: Challenges and Opportunities (A Systematic Review).

Current molecular medicine·2026
See all related articles

Related Experiment Video

Updated: Apr 22, 2026

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

20.9K

Late-Onset Glycogen Storage Disease Type 2.

M Filosto1, M S Cotelli, V Vielmi

  • 1Clinical Neurology, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100 Brescia, Italy.

Current Molecular Medicine
|October 18, 2014
PubMed
Summary
This summary is machine-generated.

Glycogenosis II, a genetic disorder, causes muscle weakness and breathing problems due to acid alpha-glucosidase deficiency. Enzyme replacement therapy shows promise but its effectiveness varies, requiring further research for better patient outcomes.

Keywords:
AutophagiaGAAGSDIIPompe's diseaseenzymatic replacement therapyglycogen storage diseaseglycogenosis IIlysosomal disease

More Related Videos

Determination of Glucan Chain Length Distribution of Glycogen Using the Fluorophore-Assisted Carbohydrate Electrophoresis FACE Method
06:13

Determination of Glucan Chain Length Distribution of Glycogen Using the Fluorophore-Assisted Carbohydrate Electrophoresis FACE Method

Published on: March 31, 2022

3.4K
Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue
02:30

Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue

Published on: October 24, 2025

289

Related Experiment Videos

Last Updated: Apr 22, 2026

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

20.9K
Determination of Glucan Chain Length Distribution of Glycogen Using the Fluorophore-Assisted Carbohydrate Electrophoresis FACE Method
06:13

Determination of Glucan Chain Length Distribution of Glycogen Using the Fluorophore-Assisted Carbohydrate Electrophoresis FACE Method

Published on: March 31, 2022

3.4K
Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue
02:30

Radiochemical Assessment of Glycogen Synthase Enzyme Activity in Animal Tissue

Published on: October 24, 2025

289

Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Glycogenosis II (GSDII), or Pompe disease, is an inherited metabolic disorder caused by acid alpha-glucosidase (GAA) deficiency.
  • This deficiency leads to glycogen buildup in muscles, impairing cellular functions and causing progressive organ failure.
  • GSDII presents in infantile and late-onset forms with distinct clinical manifestations and disease progression rates.

Purpose of the Study:

  • To summarize the pathophysiology, clinical spectrum, and therapeutic approaches for Glycogenosis II.
  • To explore factors influencing disease variability and treatment efficacy in GSDII patients.
  • To highlight the need for further research to optimize GSDII management.

Main Methods:

  • Review of existing literature on Glycogenosis II.
  • Analysis of clinical data regarding disease presentation and progression.
  • Evaluation of enzyme replacement therapy (ERT) outcomes and influencing factors.

Main Results:

  • GSDII is characterized by progressive muscle weakness, respiratory insufficiency, and potentially cardiac involvement.
  • While residual GAA activity correlates with phenotype, significant variability exists due to genetic and post-translational factors.
  • Enzyme replacement therapy with alglucosidase alfa can stabilize or improve patient condition, but efficacy is influenced by multiple patient-specific and treatment-related factors.

Conclusions:

  • Understanding factors modulating GSDII presentation and ERT response is crucial for personalized treatment.
  • Further investigation into genetic modifiers and therapeutic delivery is warranted.
  • Optimizing clinical and therapeutic management requires a comprehensive approach to GSDII care.