PMID: 6118466Jan 1, 1980

Glutathionuria: gamma-glutamyl transpeptidase deficiency

Journal of Inherited Metabolic Disease
E C WrightA D Patrick

Abstract

A mentally retarded young woman with severe behaviour problems was found to excrete large amounts of glutathione due to a generalized gamma-glutamyl transpeptidase deficiency. As in the only other case described in detail, plasma levels and renal reabsorption of the amino acids were normal. In the parents' urine, plasma and leukocytes, enzyme activity was normal but in their cultured fibroblasts it was below the minimum for the control range. An autosomal recessive mode of inheritance is suggested. The implications of these findings for possible role of the gamma-glutamyl cycle in amino acid transport are briefly discussed.

References

Aug 19, 1976·The New England Journal of Medicine·E Beutler
Jan 1, 1976·Annual Review of Biochemistry·A Meister, S S Tate
May 1, 1978·Psychological Medicine·B T Donovan
Jun 1, 1978·Journal of Neurochemistry·P E Prusiner, S B Prusiner
Jun 1, 1978·Journal of Neurochemistry·P E Prusiner, S B Prusiner
Jul 8, 1975·Biochemical and Biophysical Research Communications·J D SchulmanE J Butler
Mar 1, 1978·Archives of Disease in Childhood·B Wilcken, G Turner
Jan 30, 1971·Lancet·S I GoodmanS Pollack
Apr 6, 1973·Science·A Meister
Jan 1, 1973·Advances in Human Genetics·H L Levy
Mar 1, 1965·The Journal of Pediatrics·N A CARSONG E GAULL
Jan 1, 1965·Nutrition Reviews·G A GOLDSMITH
Dec 20, 1976·Biochemical and Biophysical Research Communications·F PellefigueJ D Schulman

Citations

Sep 25, 1981·Molecular and Cellular Biochemistry·S S Tate, A Meister
Jan 1, 1995·Journal of Inherited Metabolic Disease·J W HammondR Truscott
Feb 11, 2005·Journal of Inherited Metabolic Disease·M IidaH Kubo
Sep 29, 1995·Psychiatry Research·K L Reichelt, B Teigland-Gjerstad
Oct 1, 1996·Progress in Neuro-psychopharmacology & Biological Psychiatry·K L ReicheltW H Reichelt
Apr 19, 2006·Proceedings of the National Academy of Sciences of the United States of America·Toshihiro OkadaKeiichi Fukuyama
Jun 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·O W Griffith, A Meister
Jul 23, 1996·Proceedings of the National Academy of Sciences of the United States of America·M W LiebermanM M Matzuk
Aug 18, 2009·American Journal of Respiratory Cell and Molecular Biology·Hongqiao Zhang, Henry Jay Forman
Apr 3, 2007·Orphanet Journal of Rare Diseases·Ellinor Ristoff, Agne Larsson
Oct 8, 2011·Journal of Clinical Biochemistry and Nutrition·Junichi FujiiToshihiro Kurahashi
Sep 21, 2001·Critical Reviews in Clinical Laboratory Sciences·J B Whitfield
Aug 3, 2010·COPD·Dippica Mistry, Robert A Stockley
Mar 30, 2016·Annual Review of Chemical and Biomolecular Engineering·Michael C Yi, Chaitan Khosla
Feb 28, 2018·European Journal of Human Genetics : EJHG·Niklas DarinJorge Asin-Cayuela
Aug 1, 2018·Chembiochem : a European Journal of Chemical Biology·Zhiliang LuoDeju Ye
Mar 22, 2008·Human Genetics·Nora HeisterkampTam P Sneddon
Apr 1, 1987·Journal of Neurocytology·P Bałuk, G Gabella
Feb 3, 2004·Journal of Lipid Research·Ertan MayatepekWolf-Dieter Lehmann
Sep 12, 2020·Free Radical Biology & Medicine·Alessandro CortiAlfonso Pompella

Related Concepts

Amino Acid Metabolism, Inherited Disorders
Erythrocytes
Gamma-glutamyl transferase
Reduced Glutathione
Renal Tubule Structure
Profound Mental Retardation

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