Abstract
In 3 cases of Erythrogenesis imperfecta (Diamond-Blackfan) the concentration of adenine nucleotides in the red cells from normal donors was found to rise to twice the normal level. A factor in the plasma of the patients was postulated and proved to be an adenine compound. The concentration was 2-3 times as high in the plasma of patients as compared with normals and the excretion in the urine was likewise several fold higher. From these data it is deduced that the plasma adenine level is regulated by a hormonal interplay between the bone marrow and the liver. It is hypothesized that the bone marrow secretes an inhibitor of adenine production in the liver, which is connected with a maturation stage beyond the proerythroblast.
The life expectancy of the donor cells was not prolonged despite their high ATP level. It is concluded that factors other than ATP are limiting for the survival of the red cell.
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