Von Gierke Disease
Von Gierke Disease - Related Videos
08:30
Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
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Cited by 6 •
2017
In this paper, we describe a method to assess endothelial von Willebrand factor release and the subsequent platelet capture under fluid shear stress in response to inflammatory stimuli using an in vitro flow chamber system.
07:49
Measuring Changes in Tactile Sensitivity in the Hind Paw of Mice Using an Electronic von Frey Apparatus
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Cited by 105 •
2013
Electronic von Frey measurements are an effective and improved alternative to classical von Frey filaments, as they allow rapid and precise measurement of changes in rodent mechanical withdrawal thresholds to continuously applied pressure stimuli before and after an inflammatory event.
03:10
Von Kossa Staining of Aortic Vascular Smooth Muscle Cells: An In Vitro Technique for Assessment of Arterial Medial Layer Calcification
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2025
This video demonstrates a staining technique for assessing arterial medial calcification of the vascular smooth muscle cells in vitro. The von Kossa method employs a photochemical reaction to deposit metallic silver at the sites of calcification and impart a black coloration.
05:40
Dural Stimulation and Periorbital von Frey Testing in Mice As a Preclinical Model of Headache
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Cited by 13 •
2021
The most notable symptom of migraine is severe head pain, and it is hypothesized that this is mediated by sensory neurons innervating the meninges. Here, we present a method to locally apply substances to the dura in a minimally invasive manner while using facial hypersensitivity as an output.
06:31
Assessment of Midline Lingual Point-Pressure Somatosensation Using Von Frey Hair Monofilaments
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Cited by 9 •
2020
This work describes a standard method to assess tactile sensation at the midline of the tongue tip. Using Von Frey Hair (VFH) monofilaments, this protocol provides estimates of detection and discrimination threshold estimates for oral point pressure (OPP).
FAQs
Both pathways converge on a final step that normally permits glucose release from the liver. If glucose-6-phosphatase is defective, this shared endpoint is blocked regardless of whether glucose-6-phosphate came from glycogen breakdown or gluconeogenesis. The result links the enzyme defect directly to fasting hypoglycemia and explains why the disorder affects two major routes of carbohydrate metabolism.
The endoplasmic-reticulum transport system represents a second possible site of failure in the glucose-6-phosphatase pathway. Even when the enzyme itself is not the mutated component, a transport defect can block the same final step and produce the same metabolic consequences. This distinction connects cellular compartment function with whole-body glucose regulation.
The blocked glucose-release step leaves carbohydrate metabolism unable to maintain normal fasting glucose. In the disease context, this defect occurs alongside lactic acidosis and altered lipid metabolism, while glycogen and fat accumulate in the liver and kidneys. These linked findings show how one interruption in carbohydrate handling can affect acid-base balance, storage patterns, and organ enlargement.
Management is centered on maintaining blood glucose and limiting complications. This focus follows directly from the disorder’s fasting hypoglycemia and its effects on the liver, kidneys, lactate balance, and lipid metabolism. In clinical and biological contexts, treatment priorities reflect the pathway defect by preventing inadequate glucose availability while addressing consequences of abnormal storage and metabolism.
The liver and kidneys are prominent sites of glycogen and fat accumulation in Von Gierke disease. Enlargement of the liver, termed hepatomegaly, provides a visible sign of altered storage, while involvement of both organs emphasizes that the metabolic defect affects more than circulating glucose. Studying these organs connects intracellular storage changes with broader organ function.
Von Gierke disease is valuable as a biology model because it links a defined defect in an enzyme or transport system to changes across interconnected pathways. Studying it clarifies how glycogenolysis and gluconeogenesis support blood glucose, and how disruption can coincide with lactic acidosis, lipid changes, and organ-specific storage. It connects molecular function with physiological outcomes.