What question did this study set out to answer?

To identify erythrocyte enzymopathies, specifically glucose phosphate isomerase deficiency, as rare underlying causes of hydrops fetalis and immediate neonatal mortality.

January 29, 1987New England Journal of Medicine

Glucose Phosphate Isomerase Deficiency as a Cause of Hydrops Fetalis

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Authors

YRYaddanapudi RavindranathWayne State University DPDonald E. PagliaDartmouth College IWIndira WarrierWayne State University

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Implication

Case review reveals glucose phosphate isomerase deficiency causing hydrops fetalis in newborns, highlighting red blood cell enzymopathies as rare drivers of fatal neonatal anemia.

Key Points

To identify erythrocyte enzymopathies, specifically glucose phosphate isomerase deficiency, as rare underlying causes of hydrops fetalis and immediate neonatal mortality.
Retrospective analysis of literature evaluating neonatal hydrops fetalis and erythrocyte enzymopathy presentations.
Review of clinical outcomes across 260 reported infant cases with red cell enzyme defects.
Early neonatal death occurred within hours of birth in 4 of 260 reviewed enzymopathy cases.
Lethal hydrops fetalis was linked to single cases of glucose phosphate isomerase and triosephosphate isomerase deficiency, alongside two cases of pyruvate kinase deficiency.

Cite This Study

Ravindranath et al. (1987) studied this question.

synapsesocial.com/papers/6ab8a2fb03bafb67db13786e https://doi.org/10.1056/nejm198701293160506

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Implication

Case review reveals glucose phosphate isomerase deficiency causing hydrops fetalis in newborns, highlighting red blood cell enzymopathies as rare drivers of fatal neonatal anemia.

Glucose Phosphate Isomerase Deficiency as a Cause of Hydrops Fetalis

Discussion

Member takes

Implication

Key Points

Cite This Study

Glucose Phosphate Isomerase Deficiency as a Cause of Hydrops Fetalis

Discussion

Member takes

Implication

Key Points

Cite This Study

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