Studies of amino acid content and transport in glutathione-deficient erythrocytes from a patient with pyroglutamic acidemia (5-oxoprolinemia)

Clinica Chimica Acta; International Journal of Clinical Chemistry
S Marstein, T L Perry

Abstract

Repeated biochemical studies of the erythrocytes of a patient with pyroglutamic acidemia have shown a varying biochemical disorder in these cells. Whereas earlier studies demonstrated absence of glutathione and massive amino acid loading in erythrocytes, these cells later contained small but readily measurable amounts of glutathione and had a relatively normal amino acid content. The marked increase in amino acids after acid hydrolysis of erythrocytes had also disappeared. Transport studies showed a significant increase in the active transport of glycine, while the transport of other amino acids was comparable to that of normal cells. We are unable to detect any activity of gamma-glutamyl transpeptidase in human erythrocytes. Our observations suggest a role for glutathione in the transport of amino acids by erythrocytes, but at present no definite conclusion can be drawn with regard to the participation of the gamma-glutamyl cycle in this process. The biochemical variability in our patient's erythrocytes is unexplained and should be searched for in other patients with pyroglutamic acidemia.

References

Oct 15, 1987·Clinica Chimica Acta; International Journal of Clinical Chemistry·T SuzukiE Beutler
Jun 1, 1981·Scandinavian Journal of Clinical and Laboratory Investigation·S Marstein
Aug 1, 1983·Naunyn-Schmiedeberg's Archives of Pharmacology·K LaustiolaT Metsä-Ketelä

Citations

Aug 19, 1976·The New England Journal of Medicine·R HooverB MacMahon
Oct 25, 1979·The New England Journal of Medicine·L A BoxerJ D Schulman
Jun 2, 1978·Deutsche medizinische Wochenschrift·U Porath, K Schreier
Aug 1, 1977·The Journal of Pediatrics·S P SpielbergJ D Schulman
Jan 1, 1975·Psychological Bulletin·D M Wright
Jun 1, 1974·Proceedings of the National Academy of Sciences of the United States of America·V P WellnerA Larsson
Jan 1, 1974·Acta paediatrica Scandinavica·L HagenfeldtR Zetterström
Dec 1, 1970·Scandinavian Journal of Clinical and Laboratory Investigation·E JellumL Eldjarn

Related Concepts

Inborn Errors of Metabolism
Glycine, Monopotasssium Salt
Amino Acids, I.V. solution additive
Gamma-glutamyl transferase
Pyroglutamate
Gluthathione Synthetase Deficiency
Glutathione Measurement
Glycine
Pyrrolidinones
Glycine (Plant)

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