Related Experiment Video

Updated: Sep 29, 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

Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen

Gepke Visser1, Jan Peter Rake, Philippe Labrune

  • 1Beatrix Children's Hospital, University Hospital, Groningen, The Netherlands. g.visser@oprit.rug.nl

European Journal of Pediatrics
|October 10, 2002
PubMed

Insights

Granulocyte colony-stimulating factor (GCSF) improved neutrophil counts and reduced infections in glycogen storage disease type 1b (GSD-1b) patients. GCSF also subjectively improved inflammatory bowel disease (IBD) symptoms, though splenomegaly was a noted complication.

Area of Science:

  • Hematology
  • Pediatric Endocrinology
  • Immunology

Background:

  • Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction, leading to recurrent infections and inflammatory bowel disease (IBD).
  • Granulocyte colony-stimulating factor (GCSF) is utilized to manage these complications in GSD-1b patients.

Purpose of the Study:

  • To investigate the efficacy and value of GCSF treatment in patients with GSD-1b.
  • To assess the impact of GCSF on hematological parameters, infection rates, and IBD severity in GSD-1b.

Main Methods:

  • A retrospective registry study of GSD-1 patients born between 1960 and 1995 across 12 European countries.
  • Inclusion of 57 GSD-1b patients, with 18 receiving unglycosylated GCSF at a median age of 8 years.
  • Analysis of treatment duration, dosage, frequency, and correlation with hematological counts, infection, and IBD severity.

Main Results:

  • In untreated GSD-1b patients, hemoglobin, platelet, and leukocyte counts decreased with age, while neutrophil counts remained stable but low.
  • GCSF treatment in nine patients for over a year significantly increased median neutrophil counts.
  • Leukocyte and platelet counts significantly decreased during GCSF therapy.
  • Treated patients experienced a reduction in infection frequency and severity, and subjective improvement in IBD.

Conclusions:

  • GCSF demonstrated a significant hematological effect and subjective improvement in infections and IBD in GSD-1b patients.
  • Marked splenomegaly was observed as a complication in four patients receiving GCSF.
  • Prospective controlled trials are warranted to clarify the indications for GCSF use in GSD-1b.
Abstract

More Related Videos

Biochemical Titration of Glycogen In vitro07:16

Biochemical Titration of Glycogen In vitro

Published on: November 24, 2013

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,...
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...
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:
Overview of Carbohydrate Metabolism01:19

Overview of Carbohydrate Metabolism

Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Type I Diabetes III: Clinical Manifestations01:19

Type I Diabetes III: Clinical Manifestations

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 kidneys...
Proteoglycans01:05

Proteoglycans

Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...