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Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

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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:
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Energy-requiring Steps of Glycolysis01:20

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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...
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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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...
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Glycolysis: Preparatory Phase01:21

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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...
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Other Glycolytic Pathways01:24

Other Glycolytic Pathways

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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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ATP Energy Storage and Release01:31

ATP Energy Storage and Release

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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.
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Glucose-6-Phosphate Dehydrogenase Deficiency.

Lucio Luzzatto1, Caterina Nannelli2, Rosario Notaro2

  • 1Scientific Direction, Istituto Toscano Tumori, Viale Pieraccini 6, Florence 50139, Italy; University of Florence, Florence, Italy.

Hematology/Oncology Clinics of North America
|April 5, 2016
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Summary

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzyme disorder. It can cause severe jaundice and hemolytic anemia, highlighting its global health significance.

Keywords:
FavismGlucose-6-phosphate dehydrogenaseHemolytic anemiaMalaria selectionX-linked genetic polymorphism

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Area of Science:

  • Biochemistry
  • Genetics
  • Hematology

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) is crucial for the pentose phosphate pathway, producing NADPH.
  • G6PD deficiency is a prevalent inherited enzyme abnormality globally.
  • Mutations in G6PD often decrease enzyme stability, particularly in aging red blood cells.

Purpose of the Study:

  • To summarize the physiological role of G6PD.
  • To describe the clinical manifestations of G6PD deficiency.
  • To emphasize the global health impact of G6PD deficiency.

Main Methods:

  • Literature review of G6PD physiology and deficiency.
  • Analysis of genetic mutations affecting G6PD.
  • Clinical case review of G6PD-related conditions.

Main Results:

  • G6PD deficiency results from various mutations, impacting enzyme levels.
  • Affected individuals can be asymptomatic or develop severe neonatal jaundice.
  • Hemolytic anemia can be triggered by fava beans, infections, or certain drugs.

Conclusions:

  • G6PD deficiency is a significant global health concern.
  • Understanding G6PD's role is vital for managing associated hemolytic conditions.
  • Awareness of triggers is crucial for preventing adverse events in G6PD-deficient individuals.