Glutathione Deficiency, Pyroglutamic Acidemia and Amino Acid Transport

Numerous hereditary enzyme deficiencies have been identified in red blood cells. Some of these, such as deficiency of glyoxylase II or acetylcholinesterase, seem not to be associated with any disease. In others, as in galactosemia, no hematologic disease is present, and the red cell merely serves as a convenient tool for the detection of a metabolic disorder. Most hereditary red-cell enzyme deficiencies are associated with some degree of hemolytic anemia. Finally, there are those disorders, such as triosephosphate isomerase deficiency, aldolase A deficiency and phosphoglycerate kinase deficiency, in which shortened red-cell lifespan is associated with Central-nervous-system dysfunction. Here, the metabolic . . .