Related Experiment Video

Updated: Jun 14, 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

21.2K

Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports

Qi Feng1,2, Meng Qiao Zhang1,2, Chun Xiao Ba2,3

  • 1Hebei North University, Zhangjiakou, Hebei, China.

Medicine
|August 30, 2024
PubMed

Insights

Infantile glycogen storage disease type II (GSD II) in Chinese children presents with severe muscle weakness and heart issues. Genetic testing of the acidic alpha-glucosidase (GAA) gene is crucial for diagnosis.

Area of Science:

  • Pediatrics
  • Genetics
  • Metabolic Disorders

Background:

  • Glycogen storage disease type II (GSD II), also known as Pompe disease, is a rare inherited metabolic disorder.
  • Infantile-onset GSD II is characterized by progressive muscle weakness and cardiomyopathy, leading to early mortality.

Purpose of the Study:

  • To analyze the clinical and genetic characteristics of five infants with GSD II in mainland China.
  • To identify novel mutations in the acidic alpha-glucosidase (GAA) gene associated with infantile GSD II.

Main Methods:

  • Retrospective analysis of clinical data from five infants diagnosed with infantile GSD II.
  • Comprehensive analysis of the acidic alpha-glucosidase (GAA) gene for variants.
  • Assessment of clinical manifestations including muscle strength, hypotonia, developmental delay, creatine kinase levels, and echocardiographic findings.

Main Results:

  • All five patients presented with progressive muscle weakness, hypotonia, and motor developmental delay, with onset between 2 to 7 months.
  • Elevated creatine kinase and varying degrees of myocardial hypertrophy were observed in all cases.
  • Genetic analysis revealed compound heterozygous mutations in the GAA gene, with six novel mutations identified.

Conclusions:

  • Peripheral blood GAA gene testing and alpha-glucosidase enzyme activity assays are effective diagnostic methods for infantile GSD II.
  • The study identified new GAA gene mutations, expanding the spectrum of known genetic variations for this disease.
Abstract

More Related Videos

Determination of Glucan Chain Length Distribution of Glycogen Using the Fluorophore-Assisted Carbohydrate Electrophoresis FACE Method06:13

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

Published on: March 31, 2022

3.5K
The Extraction of Liver Glycogen Molecules for Glycogen Structure Determination04:50

The Extraction of Liver Glycogen Molecules for Glycogen Structure Determination

Published on: February 8, 2022

5.1K

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
146
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

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...
2.3K
Glucose Transporters01:27

Glucose Transporters

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:
22.6K
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,...
3.8K
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

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,...
908
Diabetes Mellitus: Overview and Type I Subtype01:22

Diabetes Mellitus: Overview and Type I Subtype

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...
2.5K