Red Blood Cell Enzyme Disorders.

Rachael F Grace, Bertil Glader

Journal: Pediatric clinics of North America 2018;65(3):579-595

PMID: 29803284

Full Text on Elsevier Science View on PubMed

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.

Address: Department of Pediatric Hematology/Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, 450 Brookline Avenue, Dana 3-106, Boston, MA 02215, USA. Electronic address: [email protected].; Department of Pediatric Hematology/Oncology, Lucile Packard Children's Hospital, Stanford University School of Medicine, 1000 Welch Road # 300, Palo Alto, CA 94304, USA.

DOI: 10.1016/j.pcl.2018.02.005

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MeSH Terms: Anemia, Hemolytic, Congenital Nonspherocytic, Glucosephosphate Dehydrogenase Deficiency, Humans, Pyruvate Kinase, Pyruvate Metabolism, Inborn Errors