2015 Self-directed Study RC Enzymopathies

Red Blood Cell Metabolism

The metabolic process in mature red blood cells, which is limited to glycolysis (anaerobic respiration) due to the absence of mitochondria.

Glycolysis

The metabolic pathway that converts glucose into pyruvate, producing energy in the form of ATP, specifically referred to in red blood cells as the Emden-Meyerhoff pathway.

Emden-Meyerhoff Pathway

A variant name for glycolysis specific to red blood cells, where specific biochemical processes occur.

Hexose Monophosphate Shunt

A metabolic pathway that generates NADPH, crucial for red blood cell function and protection against oxidative damage.

NADPH

Nicotinamide adenine dinucleotide phosphate, a cofactor involved in reductive biosynthetic reactions, particularly important for the glutathione cycle in red blood cells.

Glutathione Cycle

A biochemical pathway that utilizes NADPH to reduce oxidized glutathione, protecting red blood cells from oxidative damage.

G6PD (Glucose-6-Phosphate Dehydrogenase)

An enzyme in the hexose monophosphate shunt that produces NADPH; deficiencies can lead to hemolytic anemia.

Hemolytic Anemia

A condition characterized by the premature destruction of red blood cells, leading to a shortage in the body.

Methemoglobin

Hemoglobin that has been oxidized, resulting in a form that cannot effectively bind oxygen.

Episodic Hemolysis

A phase of hemolytic anemia characterized by temporary increases in the destruction of red blood cells due to oxidative stressors.

Favaism

A condition associated with the consumption of fava beans by individuals with G6PD deficiency, leading to acute hemolytic anemia.

Heinz Bodies

Aggregates of oxidized hemoglobin within red blood cells due to oxidative stress, indicative of hemolysis.

Spherocytes

Red blood cells that have lost membrane and cytoskeletal components, making them spherical instead of biconcave.

Bite Cells

Red blood cells that have had portions removed by splenic macrophages during the hemolytic process, appearing 'bitten'.

Pyruvate Kinase

An enzyme in the glycolytic pathway which catalyzes the conversion of phosphoenolpyruvate to pyruvate, critical for energy production in red blood cells.

Hypomagnesemia

Low magnesium levels in the blood, which can impair the function of various enzymes, including those in red blood cells.

Oxidative Stress

A condition in which there is an imbalance between oxidants and antioxidants, leading to cellular damage, especially in red blood cells.

Gallstones

Solid particles that form in the gallbladder, often resulting from the accumulation of excess bilirubin due to hemolysis.