Red Blood Cell Enzyme Disorders.
Pediatr Clin North Am
; 65(3): 579-595, 2018 06.
Article
em En
| MEDLINE
| ID: mdl-29803284
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Piruvato Quinase
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Erros Inatos do Metabolismo dos Piruvatos
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Deficiência de Glucosefosfato Desidrogenase
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Anemia Hemolítica Congênita não Esferocítica
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article