Hi, this is Tom, and in this episode I'm going to be going through G6PD deficiency,

and you can find notes at 0.0.5.com and in the 0 to Finals Pediatrics book,

and you can find flashcards and questions at members.0.0 tofinals.com. So let's jump straight in.

G6PD deficiency is a genetic condition involving a defect in the G6PD enzyme.

It features episodes of hemolysis or red blood cell destruction triggered by infections, medications or

father beans, which are broad beans. G6PD deficiency is X-linked recessive, meaning it

usually affects males as they only have a single copy of the gene on their single X chromosome.

Females have two X chromosomes, and so if one is affected and the other isn't, they won't have the condition.

G6PD deficiency is more common in people of Mediterranean, Middle Eastern and African descent.

A time tip for you, the typical exam patient with G6PD deficiency becomes jaundiced and anemic after eating broad beans, developing an infection or being treated with anti-malarial

medications.

Let's talk about the pathophysiology.

Red blood cells are constantly exposed to oxidative stress

from normal metabolism, infections and certain foods or drugs.

The G6PD enzyme helps protect red blood cells from oxidative damage.

G6PD helps produce N-A-D-P-H, which is nicotinamide, adenucleotide phosphate,

which keeps glutathione in its reduced and active form.

Reduced glutathione neutralizes oxidative molecules.

The ultimate summary is that G6PD is essential to help protect red blood cells from oxidative molecules.

G6PD deficiency leaves red blood cells more vulnerable to oxidative damage,

particularly during periods of increased stress, and this leads to damaged hemoglobin

and the formation of Heinz bodies within red blood cells, which we'll talk about shortly,

...