Pyruvate kinase deficiency

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Pyruvate Kinase Deficiency

Pyruvate kinase deficiency (pronunciation: py-roo-vate ki-nase de-fish-en-see) is a rare genetic disorder that affects the red blood cells. It is characterized by a lack of the enzyme pyruvate kinase, which is essential for the normal function of these cells.

Etymology

The term "pyruvate kinase deficiency" is derived from the name of the enzyme that is deficient in this condition. "Pyruvate" is a key molecule in glycolysis, the process by which cells generate energy. "Kinase" refers to a type of enzyme that transfers phosphate groups from high-energy donor molecules to specific substrates, a process known as phosphorylation. "Deficiency" means a lack or shortage.

Symptoms

The main symptom of pyruvate kinase deficiency is hemolytic anemia, a condition in which red blood cells are destroyed faster than they can be made. Other symptoms can include jaundice, fatigue, and splenomegaly (enlarged spleen).

Causes

Pyruvate kinase deficiency is caused by mutations in the PKLR gene. This gene provides instructions for making the enzyme pyruvate kinase, which is involved in glycolysis. Mutations in the PKLR gene reduce the activity of pyruvate kinase, disrupting the process of glycolysis and leading to the symptoms of pyruvate kinase deficiency.

Diagnosis

Diagnosis of pyruvate kinase deficiency is typically made through blood tests, including a complete blood count (CBC) and a reticulocyte count. Genetic testing can also be used to identify mutations in the PKLR gene.

Treatment

There is currently no cure for pyruvate kinase deficiency. Treatment is focused on managing symptoms and may include blood transfusions, iron chelation therapy to remove excess iron from the body, and in severe cases, a splenectomy (removal of the spleen).

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