English 
Italian CASI CLINICI – Case Reports
Volume:
Biochimica Clinica 2014; 38(2) 151-153
Pubblicato on-line:
DOI:
Un caso di carenza di glucosio-6-fosfato deidrogenasi e anemia emolitica cronica non sferocitica
AUTORI
Laboratorio di Biologia Molecolare Clinica e Medicina Personalizzata, Dipartimento di Biochimica e Biochimica Clinica, Università Cattolica del Sacro Cuore, Roma
ABSTRACT
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and chronic non-spherocytic hemolytic anemia: a case report
G6PD deficiency is an X-linked disorder, due to more than 190 mutations that determine ~400 different phenotypes. Herein, we report a case of a symptomatic male newborn affected by severe G6PD deficiency due to a novel “de novo” mutation in the exon 13 of the G6PD gene: c.1465C>T (named “G6PD Buenos Aires”)”. G6PD activity is affected by NADP+ amount through at least two mechanisms. On one hand, the activity of the enzyme is directly related to the NADP+/NADPH ratio; on the other hand, NADP+ is necessary for stabilizing the enzyme in the proper conformation. The c.1465C>T mutation, causing a proline to serine substitution at 489 amino-acid position in the “NADP+ structural site”, prevents the NADP+ to play the latter function, explaining the severe phenotype of the child.