Key Terms | Know PK Deficiency
See data on the long-term impact of PK deficiency

Key terms

Understand the terms used in PK deficiency

  • Abdominal ultrasound:
    A test that can be performed to look for gallstones or other complications involving the gallbladder
  • Anemia:
    A condition in which the blood has lower-than-normal levels of RBCs or hemoglobin
  • Aplastic crisis:
    When the production of new RBCs temporarily stops
  • ATP:
    The primary source of energy for cells
  • Autosomal recessive gene inheritance:
    A genetic disease that is inherited from receiving 2 mutated copies of a gene
  • Bilirubin:
    A substance released from RBCs when they break down, which can cause jaundice and scleral icterus
  • Cardiologist:
    A doctor that specializes in heart disease
  • Catalyze:
    To increase the rate of a chemical reaction
  • Cholecystectomy:
    Surgical removal of the gallbladder
  • Chromosome:
    A very long strand of DNA that’s stored in the cell’s nucleus and contains its genetic information. Each chromosome may contain hundreds to thousands of genes
  • Chronic:
    Lasting a long time
  • Cognitive difficulties:
    Problems associated with memory, language, thinking, and judgment
  • Deficiency:
    A shortage of something
  • DNA:
    The genetic material that tells a cell how to grow and what its job is
  • DXA (or DEXA) scan:
    An X-ray performed to assess bone strength
  • Echocardiogram (echo):
    A test assessing heart function and signs of pulmonary hypertension
  • Endocrinologist:
    A doctor that specializes in conditions caused by problems with glands and hormones (endocrine diseases)
  • Enzyme:
    A protein that catalyzes chemical reactions that occur inside the body
  • Enzyme assay:
    A measurement, determined by a blood test, of how active an enzyme is
  • Extramedullary hematopoiesis:
    Blood cell production occurring outside of the bone marrow, in organs such as the liver or spleen
  • Ferritin:
    A blood protein that contains iron
  • Gallbladder:
    An organ that stores and concentrates bile between meals
  • Gallstones:
    Small stones that form in the gallbladder
  • Gastroenterologist:
    A doctor that specializes in diseases affecting the digestive system
  • Gene:
    Stretches of DNA. Different genes have different jobs, but many genes tell the proteins in our bodies how to work
  • Gene mutation:
    A permanent change in the DNA sequence of a gene, altering the gene’s ability to make a protein and causing the protein to stop working properly
  • Glycolysis:
    The process of RBCs converting glucose (sugar) into pyruvate and ATP
  • Hemoglobin:
    A protein that helps RBCs carry the oxygen your body needs
  • Hemolysis:
    The breakdown of RBCs, which leads to the release of hemoglobin and bilirubin into the blood
  • Hemolytic anemia:
    A type of anemia that is caused by the early breakdown of RBCs in the bloodstream or by the spleen
  • Iron overload:
    An excess of iron in the body
  • Jaundice:
    Yellowing of the skin caused by high levels of bilirubin in the body
  • MRI:
    A scan performed to look for iron overload in the liver and heart
  • Ophthalmologist:
    A doctor that specializes in vision issues and eye disease
  • Osteopenia:
    A decrease in bone mass or bone mineral density. In severe cases, it can progress to osteoporosis
  • Osteoporosis:
    A severe form of osteopenia where the density and strength of bones are reduced
  • PKLR:
    The gene for pyruvate kinase
  • PKR (pyruvate kinase in RBC):
    The pyruvate kinase enzyme
  • Red blood cells (RBCs or erythrocytes):
    Cells that carry oxygen throughout the body
  • Scleral icterus:
    Yellowing of the whites of the eyes caused by high levels of bilirubin in the body
  • Spleen:
    An organ that filters blood, helps support the immune system, and removes old or damaged blood cells from the body
  • Splenectomy:
    Surgical removal of the spleen
  • Splenomegaly:
    An enlarged spleen
  • Transfusion:
    The process of putting blood into the bloodstream by intravenous (IV, meaning through the veins) infusion into the arm

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