A Novel Mutation of Glucose Phosphate Isomerase (GPI) Causing Severe Neonatal Anemia Due to GPI Deficiency
Publication date
2019-04
Authors
Burger, Nienke C M
van Wijk, Richard
Bresters, Dorine
Schell, Eveline A
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Supervisors
Document Type
Article
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Abstract
Glucose-6-phosphate isomerase (GPI) deficiency is very rare, but one of the most common erythroenzymopathies, causing hereditary nonspherocytic hemolytic anemia. This case report describes the clinical features and the molecular etiology of a Dutch patient with GPI deficiency. She is the fifth patient with GPI deficiency identified to date in the Netherlands and was found to be compound heterozygous for the previously reported c.1615G>A p.(Asp539Asn) mutation and a novel c.271A>T p.(Asn91Tyr) variant.
Keywords
Enzyme mutants, GPI deficiency, Glucose-6-phosphate isomerase (GPI), Glycolysis, Hemolytic anemia, Pediatrics, Perinatology, and Child Health, Hematology, Oncology
Citation
Burger, N C M, van Wijk, R, Bresters, D & Schell, E A 2019, 'A Novel Mutation of Glucose Phosphate Isomerase (GPI) Causing Severe Neonatal Anemia Due to GPI Deficiency', Journal of Pediatric Hematology/oncology, vol. 41, no. 3, pp. e186-e189. https://doi.org/10.1097/MPH.0000000000001393