Red Blood Cell Enzyme Disorders.

Abstract

Mature red blood cells are reliant on the glycolytic pathway for energy production and the hexose monophosphate shunt for cell protection from oxidative insults. The most common red blood cell enzyme disorders are characterized by hemolysis but with wide clinical variability. Glucose-6-phosphate dehydrogenase deficiency is the most common red cell enzyme disorder worldwide. Frequent clinical presentations include neonatal jaundice and episodic hemolysis after exposure to oxidative stress. Symptoms of pyruvate kinase deficiency and other glycolytic enzyme disorders include neonatal jaundice, chronic hemolytic anemia, gallstones, and transfusion-related and transfusion-independent iron overload. Diagnosis is critical for appropriate supportive care, monitoring, and treatment.

• Authors: Rachael F Grace, Bertil Glader
• Journal: Pediatric clinics of North America (Pediatr Clin North Am) Vol. 65 Issue 3 Pg. 579-595 (06 2018) ISSN: 1557-8240 [Electronic] United States
• PMID: 29803284 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright © 2018 Elsevier Inc. All rights reserved.

Chemical References

• Pyruvate Kinase

Topics

• Anemia, Hemolytic, Congenital Nonspherocytic (diagnosis, etiology)
• Glucosephosphate Dehydrogenase Deficiency (diagnosis, etiology, therapy)
• Humans
• Pyruvate Kinase (deficiency, therapeutic use)
• Pyruvate Metabolism, Inborn Errors (diagnosis, etiology)