pyruvate kinase deficiency…

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pyruvate kinase deficiency, inherited deficiency, the enzyme pyruvate kinase, is used by red blood cells, enzyme, red blood cells break down too, resulting in low levels of these cells, hemolytic anemia, pyruvate kinase deficiency is transmitted, an autosomal recessive trait, that a child must get the defective gene from both parents to develop the disorder, many different types of enzymatic defects, the red blood cell, cause hemolytic anemia, pyruvate kinase deficiency, second most common cause of enzymatic-related hemolytic anemia, g-6-pd deficiency, number one cause, pyruvate kinase deficiency, produce mild, severe hemolysis, anemia, first appear, in the newborn, prolonged jaundice, anemia, older children pale, due to anemia, have intermittent episodes of jaundice, not discovered, adulthood in mild cases, pyruvate kinase deficiency is found in people of all ethnic backgrounds, certain populations, amish, somewhat higher incidence, a family history of pyruvate kinase deficiency, pallor, jaundice, a yellowing, the whites, the eyes, icterus, fatigue, lethargy, anemia, recurrent gallstones, , a physical exam, look, an enlarged spleen, cbc showing anemia, normocytic, not pale, red blood cells, macrocytosis, large red blood cells, pyruvate kinase activity shows deficient levels of this enzyme in red blood cells, high levels of bilirubin, in the blood, low levels of haptoglobin, in the blood, increased osmotic fragility, red blood cells, not be present, high fecal urobilinogen, genetic testing, mutation, in the pyruvate kinase gene, blood transfusions needed, severe anemia, removal, the spleen, splenectomy, help to reduce the destruction of red blood cells, should not necessarily be performed, does not help in all cases, in newborns, dangerous levels of jaundice, an exchange transfusion is likely to be recommended, a splenectomy was done, person should receive pneumococcal vaccine at recommended intervals, outcome, have few, no symptoms, others have severe symptoms, treatment, successful in reducing the severity of symptoms, gallstones, composed of bilirubin produced in excess, hemolytic anemia, a common problem, severe pneumococcal disease following splenectomy, complication, see health care provider, jaundice occurs at any time, symptom of many severe illnesses, family history of this disorder, planning a pregnancy, , genetic counseling is of value to prospective parents, a family history of pyruvate kinase deficiency, people who carry the gene, diagnosed, decreased rbc pyruvate kinase activity in red blood cells.