Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency

1995 ◽  
Vol 18 (1) ◽  
pp. 48-55 ◽  
Author(s):  
A. J. Lloyd ◽  
R. G. F. Gray ◽  
A. Green
Keyword(s):  
Thiol Group ◽  
Glutathione Synthetase ◽  
Tyrosinaemia Type ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency ◽  
Tyrosinaemia Type 1 ◽  
Fumarylacetoacetate Hydrolase

scholarly journals Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency

Blood ◽  
1983 ◽  
Vol 62 (4) ◽  
pp. 754-757 ◽  
Author(s):  
JT Prchal ◽  
WM Crist ◽  
M Roper ◽  
VP Wellner
Keyword(s):  
Metabolic Acidosis ◽  
Hemolytic Anemia ◽  
Male Infant ◽  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency ◽  
Febrile Episodes ◽  
Relationship Of ◽  
The Relationship ◽  
Generalized Type

Abstract The clinical and laboratory features of a 3-mo-old black male infant with glutathione (GSH) synthetase deficiency of the generalized type was evaluated. Partial albinism, brisk hemolytic anemia, recurrent febrile episodes, and mental retardation were noted. Also, severe recurrent metabolic acidosis and marked oxoprolinemia and oxoprolinuria were found in the proband but not in his first-degree relatives. The relationship of these disease manifestations to the underlying metabolic defect is discussed.

Glutathione Synthetase Deficiency

2009 ◽  
pp. 726-727
Author(s):  
David J. Timson ◽  
Richard J. Reece ◽  
James B. Thoden ◽  
Hazel M. Holden ◽  
Andrea L. Utz ◽  
...  
Keyword(s):  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency
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