Related Experiment Video

Updated: Jun 28, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

[A case of Pompe disease treated with acid alpha-glucosidase]

Katarzyna Kapica-Topczewska1, Joanna Tarasiuk, Alina Kułakowska

  • 1Klinika Neurologii SPSK AM, ul. Skłodowskiej-Curie 24A, 15-276 Białystok. katarzyna-kapica@wp.pl

Neurologia I Neurochirurgia Polska
|November 1, 2008
PubMed

Insights

Enzyme replacement therapy with recombinant human acid alpha-glucosidase (rhGAA) improved a patient with advanced Pompe disease. The treatment led to better muscle function and reduced respiratory support, suggesting rhGAA

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Pompe disease, a rare genetic disorder, results from acid alpha-glucosidase deficiency, leading to glycogen buildup in lysosomes.
  • This metabolic myopathy causes progressive muscle weakness and respiratory compromise.

Observation:

  • A 32-year-old patient diagnosed with Pompe disease received enzyme replacement therapy (ERT) with rhGAA for 18 months.
  • The patient had been diagnosed 14 years prior and was in an advanced stage of the disease at the start of ERT.

Findings:

  • ERT with rhGAA demonstrated significant clinical improvements in the patient.
  • Observed benefits included increased muscle bulk, strength, and range of motion in distal limbs.
  • Respiratory function improved, with reduced dyspnea and decreased daily respirator use from 5 to 2-3 hours.

Implications:

  • This case suggests that ERT with rhGAA can lead to clinical benefits even when initiated in advanced stages of Pompe disease.
  • Further research into the long-term efficacy and optimal timing of rhGAA therapy in Pompe disease is warranted.

More Related Videos

Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs10:44

Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs

Published on: May 15, 2019

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Pancreatic Juice and Secretion01:26

Pancreatic Juice and Secretion

Pancreatic juice is a clear fluid produced by the pancreas, containing water, salts, sodium bicarbonate, and enzymes vital for digestion in the small intestine. It helps break down large molecules, facilitating nutrient absorption.
When acidic chyme from the stomach enters the duodenum, it triggers the release of secretin, a hormone that prompts pancreatic juice secretion. After a fatty meal, cholecystokinin, another hormone, stimulates gallbladder contraction and enhances enzyme-rich...
Oral Hypoglycemic Agents: α-Glucosidase Inhibitors01:19

Oral Hypoglycemic Agents: α-Glucosidase Inhibitors

α-glucosidase inhibitors, including acarbose (Precose), miglitol (Glyset), and voglibose (Voglib) (primarily available in Asia), are drugs that control blood sugar levels by delaying the digestion of starch and disaccharides. They achieve this by inhibiting α-glucosidase enzymes in the intestine, which slow the absorption of carbohydrates in the intestine, which in turn leads to a prolonged release of the glucoregulatory hormone GLP-1 from intestinal L-cells.
Acarbose and miglitol are typically...
Acute Pancreatitis I: Introduction01:25

Acute Pancreatitis I: Introduction

Acute pancreatitis is the sudden inflammation of the pancreas caused by the early activation of digestive enzymes, leading to the autodigestion of pancreatic tissue. This results in local inflammation and, in severe cases, systemic complications.EtiologyUnderstanding the underlying causes is crucial, as identifying the etiology guides treatment and anticipates complications. Acute pancreatitis can be triggered by various factors, typically grouped into the following clinical categories.Biliary...
Acute Pancreatitis I: Introduction01:27

Acute Pancreatitis I: Introduction

Pancreatitis is inflammation of the pancreas, an organ located behind the stomach. It can be either acute or chronic.
Acute pancreatitis is characterized by rapid inflammation of the pancreas, often caused by factors like gallstone blockage or excessive alcohol consumption. Chronic pancreatitis, on the other hand, is a slow, progressive inflammation that may result from long-term alcohol abuse, obstructions in the pancreatic duct, or genetic factors.
The causes of acute pancreatitis include:
Acute Pancreatitis II: Pathophysiology01:21

Acute Pancreatitis II: Pathophysiology

The pathophysiology of acute pancreatitis centers on injury to pancreatic acinar cells, which initiates a cascade of harmful intracellular events.This injury leads to premature activation of trypsinogen to trypsin in the pancreas. Trypsin then activates other digestive enzymes, such as chymotrypsin, elastase, and phospholipase A2, which begin breaking down pancreatic tissue. The resulting autodigestion causes local inflammation, tissue swelling, hemorrhage, and fat necrosis.Injured acinar cells...