Pyruvate kinase deficiency, liver type

Pyruvate Kinase Deficiency, Liver Type is a rare metabolic disorder characterized by a deficiency of the enzyme pyruvate kinase in the liver. This enzyme plays a crucial role in the glycolysis pathway, a major process that produces energy in cells by breaking down glucose. The deficiency leads to various metabolic and hematological issues, including anemia, jaundice, and an increased risk of gallstones. This condition is one of the types of Pyruvate Kinase Deficiency (PKD), which more commonly affects the red blood cells.

Symptoms and Diagnosis

The symptoms of Pyruvate Kinase Deficiency, Liver Type, can vary widely among affected individuals. Common symptoms include fatigue, weakness, pallor (due to anemia), and jaundice (yellowing of the skin and eyes). In some cases, affected individuals may also develop hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and complications related to gallstones.

Diagnosis of this condition involves a combination of clinical evaluation, blood tests, and genetic testing. Blood tests may reveal signs of hemolytic anemia, such as low hemoglobin levels and increased levels of bilirubin. Genetic testing can confirm the presence of mutations in the PKLR gene, which provides instructions for making the pyruvate kinase enzyme.

Genetics

Pyruvate Kinase Deficiency, Liver Type, is inherited in an autosomal recessive manner. This means that to be affected, an individual must have a mutation in both copies of the PKLR gene in each cell. Individuals who have only one mutated copy of the gene are considered carriers and usually do not show symptoms of the disease.

Treatment

There is no cure for Pyruvate Kinase Deficiency, Liver Type, but treatment focuses on managing symptoms and preventing complications. Treatment options may include blood transfusions to treat anemia, chelation therapy to remove excess iron from the body due to frequent blood transfusions, and surgery to remove the spleen if splenomegaly causes significant symptoms or complications.

Prognosis

The prognosis for individuals with Pyruvate Kinase Deficiency, Liver Type, varies depending on the severity of the symptoms and the effectiveness of the management strategies. With appropriate treatment, many individuals can lead normal, active lives.

See Also

• Glycolysis
• Hemolytic anemia
• Metabolic disorder

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