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An interesting syndrome of hemolytic anemia, degeneration of the liver and diabetes associated with a high red cell mg‐atpase, detected by 31 p NMR spectroscopy
Author(s) -
Kagimoto Tadashi,
Higaki Tsuyoshi,
Nagata Kohichi,
Morino Yoshimasa,
Takatsuki Kiyoshi
Publication year - 1989
Publication title -
nmr in biomedicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.278
H-Index - 114
eISSN - 1099-1492
pISSN - 0952-3480
DOI - 10.1002/nbm.1940020303
Subject(s) - diabetes mellitus , nuclear magnetic resonance spectroscopy , red cell , chemistry , atpase , degeneration (medical) , cell , hemolytic anemia , medicine , biochemistry , nuclear magnetic resonance , endocrinology , pathology , enzyme , stereochemistry , physics
31 P NMR was used to study the erythrocytes of three patients who exhibited a familial multisystem disease characterized by fatty liver, diabetes and nonspherocytic hemolytic anemia of unknown etiology. 31 P NMR measurements disclosed an abnormally high level of intracellular inorganic phosphate (P i ) and an abnormally low level of ATP in the erythrocytes 6 h after blood withdrawal from proband (I–1). This finding suggested that ATP was markedly decreased in the red cells of this proband, as compared with those of normal subjects. Time‐dependent changes of 31 P NMR spectra of the erythrocytes from the two daughters (II‐1, II‐2) of the proband demonstrated clearly an enhanced decomposition of ATP with a concomitant increment of P i . Several ATP‐consuming enzymes in erythrocytes, such as those in the Embden‐Meyerhof system, pentose phosphate pathway enzymes, Na + , K + ‐ATPase and Ca 2+ , Mg 2+ ‐ATPase, were within normal limits of activity, but Mg 2+ ‐ATPase was drastically above the normal limit. The Mg 2+ ‐ATPase activity was 3 times higher in the red cell membranes of these patients than in those from normal subjects.