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BC: Articoli scritti da A. Minucci

Un caso di carenza di glucosio-6-fosfato deidrogenasi e anemia emolitica cronica non sferocitica
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and chronic non-spherocytic hemolytic anemia: a case report
A. Minucci  |  G. Canu  |  C. Zuppi  |  E. Capoluongo  | 
<p>G6PD deficiency is an X-linked disorder, due to more than 190 mutations that determine ~400 different&nbsp;phenotypes. Herein, we report a case of a symptomatic male newborn affected by severe G6PD deficiency due to a&nbsp;novel <em>&ldquo;de novo&rdquo;</em> mutation in the exon 13 of the G6PD gene: c.1465C&gt;T (named &ldquo;G6PD Buenos Aires&rdquo;)&rdquo;. G6PD activity&nbsp;is affected by NADP<sup>+</sup> amount through at least two mechanisms. On one hand, the activity of the enzyme is directly&nbsp;related to the NADP<sup>+</sup>/NADPH ratio; on the other hand, NADP<sup>+</sup> is necessary for stabilizing the enzyme in the proper&nbsp;conformation. The c.1465C&gt;T mutation, causing a proline to serine substitution at 489 amino-acid position in the&nbsp;&ldquo;NADP<sup>+</sup> structural site&rdquo;, prevents the NADP<sup>+</sup> to play the latter function, explaining the severe phenotype of the child.</p>
Biochimica Clinica ; 38(2) 151-153
Casi clinici - Case report