Frequency, Causes, Inheritance, Signs as well as Symptoms, Disorders with Similar Symptoms of Phospho Glycerate Kinase Deficiency

Phosphoglycerate kinase deficiency is a genetic disorder that influences the body's capability to disintegrate the simple sugar glucose, which is the primary energy source for most cells. Researchers have narrated two major forms of the condition. The most common form is sometimes termed as the hemolytic form. It is manifested by a condition termed as chronic hemolytic anemia, in which red blood cells are disintegrated. (undergo hemolysis) prematurely. Chronic hemolytic anemia can result in unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath as well as a rapid heart rate. In addition to intellectual disability, seizures, and stroke, some individuals with the hemolytic form also show signs of aberrant brain function.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-03-11
DOI
https://doi.org/10.5281/zenodo.18949914
Primary Topic
Erythrocyte Function and Pathophysiology
Type
article
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article

Frequency, Causes, Inheritance, Signs as well as Symptoms, Disorders with Similar Symptoms of Phospho Glycerate Kinase Deficiency

Madhavi Latha C, Muralinath E., Guruprasad M., Manohar U. et al.
Zenodo (CERN European Organization for Nuclear Research)
Erythrocyte Function and Pathophysiology
article

Frequency, Causes, Inheritance, Signs as well as Symptoms, Disorders with Similar Symptoms of Phospho Glycerate Kinase Deficiency

Madhavi Latha C, Muralinath E., Guruprasad M., Manohar U., Srinadh G., Rohitha K., Sheethal U., Rajitha V.
article en

Abstract

Phosphoglycerate kinase deficiency is a genetic disorder that influences the body's capability to disintegrate the simple sugar glucose, which is the primary energy source for most cells. Researchers have narrated two major forms of the condition. The most common form is sometimes termed as the hemolytic form. It is manifested by a condition termed as chronic hemolytic anemia, in which red blood cells are disintegrated. (undergo hemolysis) prematurely. Chronic hemolytic anemia can result in unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath as well as a rapid heart rate. In addition to intellectual disability, seizures, and stroke, some individuals with the hemolytic form also show signs of aberrant brain function.

Zenodo (CERN European Organization for Nuclear Research)
Openalex Percentile: Top 25%
Erythrocyte Function and Pathophysiology
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