Question

Phosphoglycerate Kinase (PGK) is an essential enzyme used in glycolysis (see step circled in diagram). Phosphoglycerate Kinase Deficiency (PGKD) is an X-linked genetic condition that can change how the PGK enzyme works. While there are many documented mutations that can lead to PGKD, researchers are investigating two specific cases with two different mutations with slightly different phenotypes.

Answer 1

Phosphoglycerate kinase deficiency is extremely rare. This condition is mainly found in XY people who have difficulty in producing the required ATP during one of tha stages of glycolysis.

This leads to challenges in proper sugar break down by the body to produce energy. It is mainly of two types: the one causing haemolytic anemia and the other causing muscular problems due to improper breakdown of myoglobin.

There are several complications associated with the disease, like fatigue, weakness, laziness, mental problems in some cases, and for the one where myoglobin is not broken it can lead to kidney failure as it gets processed in the kidney.

Nicola being affected could have survived for one of the following reasons:

1. The complications associated with the disease are not severe.

2. He was able to get proper treatment that involves transfusions and transplantation in severe case for proper production of RBCs.

So these could be some of the reasons that led him to survive.