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

Pyroglutamic acidemia in an adult patient.

1989 ◽  
Vol 35 (4) ◽  
pp. 684-686 ◽  
Author(s):  
M H Creer ◽  
B W Lau ◽  
J D Jones ◽  
K M Chan
Keyword(s):  
Metabolic Acidosis ◽  
Autosomal Recessive ◽  
Unusual Case ◽  
Glutathione Synthetase ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency ◽  
High Concentrations ◽  
Rare Metabolic Disorder

Abstract Pyroglutamic acidemia, a rare metabolic disorder, usually appears in infancy. It is characterized by retardation, ataxia, hemolytic anemia, and chronic acidosis and is caused by a marked deficiency of glutathione synthetase (EC 6.3.2.3) activity. This disease is inherited as an autosomal recessive trait, but the clinical condition is also detected in heterozygotes. We report an unusual case of high-anion-gap metabolic acidosis in a 52-year-old woman who was admitted with neurological complaints and breathing problems but without the characteristic clinical features of congenital glutathione synthetase deficiency. The etiology of the acidosis could not be attributed to ketoacidosis, lactic acidosis, or ingestion of methanol, salicylate, or ethylene glycol. Analysis of the patient's plasma and urine for organic acids revealed the presence of high concentrations of pyroglutamate (5-oxoproline), which remained high throughout her hospitalization.

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

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 Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency

Blood ◽  
1996 ◽  
Vol 87 (5) ◽  
pp. 2071-2074 ◽  
Author(s):  
A Hirono ◽  
H Iyori ◽  
I Sekine ◽  
J Ueyama ◽  
H Chiba ◽  
...  
Keyword(s):  
Blood Cell ◽  
Hemolytic Anemia ◽  
Red Blood Cell ◽  
Japanese Patients ◽  
Glutathione Synthetase ◽  
Synthetase Activity ◽  
Glutathione S Transferase ◽  
Mild Deficiency ◽  
Glutathione Deficiency ◽  
Generalized Type

Abstract Three unrelated Japanese patients with chronic nonspherocytic hemolytic anemia wer found to have marked deficiency of red blood cell (RBC) reduced glutathoine (GSH) (4.4%, 13.1%, and 6.9% of normal, respectively). A panel of RBC enzyme assays showed that one patient had decreased glutathione synthetase activity and the other two were moderately deficient in gamma-glutamylcystine synthetase. Some family members of each patient showed mild deficiency of the respective enzymes. RBCs of these patients also showed a decreased level of glutathione-S-transferase as in previously described GSH-deficient cases. Hemolytic anemia was their only manifestation, and neither 5- oxoprolinemia nor 5-oxoprolinuria, which are usually associated with to generalized type of glutathione synthetase deficiency, was noted in our patients.

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