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Related Concept Videos

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.
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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...
Overview of Protein Metabolism01:21

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Type II Diabetes II: Pathophysiology01:24

Type II Diabetes II: Pathophysiology

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.
Muscle Recovery and Fatigue01:24

Muscle Recovery and Fatigue

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Quantification of Subcellular Glycogen Distribution in Skeletal Muscle Fibers using Transmission Electron Microscopy
08:32

Quantification of Subcellular Glycogen Distribution in Skeletal Muscle Fibers using Transmission Electron Microscopy

Published on: February 7, 2022

Progress and problems in muscle glycogenoses.

S DiMauro1, R Spiegel

  • 1Department of Neurology, Columbia University Medical Center, New York, USA. sd12@columbia.edu

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology
|November 24, 2011
PubMed
Summary
This summary is machine-generated.

This review highlights unresolved questions in glycogen storage diseases (GSDs), focusing on Pompe disease, GSD III, GSD IV, McArdle disease, GSD VII, GSD IX, and GSD X. Understanding these GSDs requires further research into their complex pathogenesis and clinical presentations.

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Last Updated: May 27, 2026

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Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Glycogen storage diseases (GSDs) encompass a group of inherited metabolic disorders affecting glycogen metabolism.
  • While some GSDs have well-defined mechanisms, many present with unexplained clinical heterogeneity and complex pathogenetic questions.

Purpose of the Study:

  • To review and highlight key unsolved questions in the pathogenesis and clinical presentation of various GSDs.
  • To identify areas requiring future research to advance understanding and treatment of GSDs.

Main Methods:

  • Selective review of existing literature on glycogen storage diseases.
  • Focus on identifying and discussing unresolved questions and clinical conundrums.

Main Results:

  • Pompe disease (GSD II) pathogenesis may involve broader autophagy dysfunction beyond glycogen accumulation.
  • The myopathy in debrancher deficiency (GSD III) might be linked to neuropathy.
  • Infantile GSD IV is underdiagnosed; its late-onset variant (APBD) shares features with other polyglucosan disorders.
  • Clinical heterogeneity in McArdle disease (GSD V) and infantile GSD VII remain puzzling.
  • Associations between GSD IX and Parkinsonism, and GSD X and tubular aggregates, warrant further investigation.

Conclusions:

  • Significant gaps in understanding persist for several GSDs, including Pompe, GSD III, GSD IV, McArdle, GSD VII, GSD IX, and GSD X.
  • Future research should prioritize addressing these complex pathogenetic and clinical questions to improve patient outcomes.