Abstract
A three year old white male with Class I glucose-6-phosphate dehydrogenase (G-6-PD) deficiency developed fever and lethargy. In spite of antibiotics, he developed septic shock and died twelve hours later. Blood and post-mortem liver cultures grew Chromobacterium violaceum. Molecular, kinetic and functional studies were carried out on erythrocytes (RBCs), leukocytes (PMNs) and fibroblasts of his identical twin and mother.
Chemiluminescence was profoundly abnormal in the twin.
G-6-PD isolated from the twin's fibroblasts demonstrated heat lability (27% of initial activity), normal G-6-P Km (56μM) and pH curve, and increased utilization of 2-d-G6P (76% of G-6-P rate); suggesting a new molecular variant (G-6-PD Beaumont).
This is the first reported lethal infection in a child with neutrophil dysfunction due to PMN G-6-PD deficiency. This enzyme defect, like classic chronic granulomatous disease, may cause unique susceptibility to Chromobacterium violaceum.
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Mamlok, R., Daeschner, C., Mills, C. et al. 923 GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY, NEUTROPHIL DYSFUNCTION AND CHROMOBACTERIUM VIOLACEUM SEPSIS. Pediatr Res 19, 264 (1985). https://doi.org/10.1203/00006450-198504000-00953
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DOI: https://doi.org/10.1203/00006450-198504000-00953