Question

What rare disease results from a deficiency in GPI synthesis making red blood cells susceptible to lysis?

A. Tay-Sachs disease
B. Gaucher disease
C. Niemann-Pick disease
D. Paroxysmal Nocturnal Hemoglobinuria (PNH)

Answer 1

Paroxysmal Nocturnal Hemoglobinuria (PNH) is the disease caused by a deficiency in GPI synthesis, which makes red blood cells prone to lysis.

Step-by-step explanation:

The rare disease that results from a deficiency in GPI synthesis making red blood cells susceptible to lysis is Paroxysmal Nocturnal Hemoglobinuria (PNH). This disorder leads to the destruction of red blood cells, which in turn causes hemoglobin to be released into the blood circulation. It is important to distinguish PNH from other red blood cell disorders such as G6PD deficiency, which while also leading to hemolysis, does not involve GPI synthesis. G6PD deficiency is characterized by low levels of the glucose-6-phosphate dehydrogenase enzyme, making red blood cells more vulnerable to oxidative damage, whereas PNH is related to the absence of protective proteins on the cell surface, due to the GPI synthesis deficiency.