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Related Concept Videos

Energy-requiring Steps of Glycolysis01:20

Energy-requiring Steps of Glycolysis

Glucose is the source of nearly all energy used by organisms. The first step of converting glucose into usable energy is called glycolysis. Glycolysis occurs in the cytosol of the cell over two phases: an energy-requiring phase and an energy-releasing phase. Over the first three steps, glucose is converted into different forms and attached to two phosphate groups donated by two ATP molecules, resulting in an unstable sugar. In the next two stages, the unstable sugar splits into two sugar...
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:
Glycolysis: Preparatory Phase01:21

Glycolysis: Preparatory Phase

In cellular metabolism (the complete breakdown of glucose to extract energy),  glycolysis is the first step. Glycolysis takes place in the cytoplasm of both prokaryotic and eukaryotic cells. Glucose enters heterotrophic cells in two ways. One method is through secondary active transport, where the transport takes place against the glucose concentration gradient. The other mechanism uses a group of integral proteins called GLUT proteins, also known as glucose transporter proteins. These...
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...
ATP Energy Storage and Release01:31

ATP Energy Storage and Release

ATP is a highly unstable molecule. Unless quickly used to perform work, ATP spontaneously dissociates into ADP and inorganic phosphate (Pi), and the free energy released during this process is lost as heat. The energy released by ATP hydrolysis is used to perform work inside the cell and depends on a strategy called energy coupling. Cells couple the exergonic reaction of ATP hydrolysis with endergonic reactions, allowing them to proceed.
One example of energy coupling using ATP involves a...
Other Glycolytic Pathways01:24

Other Glycolytic Pathways

The pentose phosphate pathway (PPP) operates in parallel with glycolysis, facilitating the metabolism of both pentoses and glucose. This pathway consists of two distinct phases: the oxidative and non-oxidative phases. While it does not directly generate ATP, the intermediates formed during the process can integrate into glycolysis, contributing to cellular energy metabolism when required.Oxidative Phase: NADPH ProductionThe oxidative phase of the pentose phosphate pathway is primarily...

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Spectrophotometric Methods for the Study of Eukaryotic Glycogen Metabolism
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Spectrophotometric Methods for the Study of Eukaryotic Glycogen Metabolism

Published on: August 19, 2021

Glucose-6-phosphate dehydrogenase deficiency.

M D Cappellini1, G Fiorelli

  • 1Department of Internal Medicine, University of Milan, Policlinico, Mangiagalli, Regina Elena Foundation IRCCS, Via F Sforza 35, Milan, Italy. maria.cappellini@unimi.it

Lancet (London, England)
|January 8, 2008
PubMed
Summary

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzyme defect, affects over 400 million globally. Its distribution mirrors malaria, suggesting a protective effect against the disease.

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Area of Science:

  • Genetics
  • Biochemistry
  • Epidemiology

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most prevalent human enzyme defect, impacting over 400 million individuals worldwide.
  • Its geographic distribution correlates strongly with malaria prevalence, supporting the malaria protection hypothesis.
  • This X-linked disorder arises from mutations in the G6PD gene, resulting in diverse biochemical and clinical presentations.

Purpose of the Study:

  • To summarize the genetic basis, clinical manifestations, and epidemiological significance of Glucose-6-phosphate dehydrogenase (G6PD) deficiency.
  • To highlight the relationship between G6PD deficiency and malaria.
  • To outline current understanding of G6PD deficiency management and screening.

Main Methods:

  • Review of existing literature on G6PD deficiency.
  • Analysis of epidemiological data on G6PD deficiency and malaria distribution.
  • Compilation of known G6PD gene mutations and their associated phenotypes.

Main Results:

  • Over 140 mutations in the G6PD gene have been identified, primarily single base changes causing amino acid substitutions.
  • Key clinical features include neonatal jaundice and acute hemolytic anemia, often triggered by external factors.
  • Some variants lead to chronic hemolysis, presenting as congenital non-spherocytic hemolytic anemia.

Conclusions:

  • Effective management of G6PD deficiency involves preventing hemolysis by avoiding oxidative stress.
  • Screening programs are implemented based on local G6PD deficiency prevalence.
  • G6PD deficiency represents a significant global health concern with implications for infectious disease dynamics.