Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency

PEDIATRICS ◽  
2016 ◽  
Vol 138 (3) ◽  
pp. e20154324-e20154324 ◽  
Author(s):  
I. Signolet ◽  
R. Chenouard ◽  
F. Oca ◽  
M. Barth ◽  
P. Reynier ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency

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.

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

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.

Hemolytic Anemia and Metabolic Acidosis: Think about Glutathione Synthetase Deficiency

2014 ◽  
Vol 34 (1) ◽  
pp. 18-20 ◽  
Author(s):  
Salma Ben Ameur ◽  
Hajer Aloulou ◽  
Fehmi Nasrallah ◽  
Thouraya Kamoun ◽  
Naziha Kaabachi ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Hemolytic Anemia ◽  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency

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

scholarly journals Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene

2003 ◽  
Vol 22 (6) ◽  
pp. 497-497 ◽  
Author(s):  
Runa Njålsson ◽  
Katarina Carlsson ◽  
Andreas Winkler ◽  
Agne Larsson ◽  
Svante Norgren
Keyword(s):  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency
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